Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MICU3	286097	broad.mit.edu	37	8	16948072	16948072	+	Silent	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:16948072A>T	ENST00000318063.5	+	8	909	c.867A>T	c.(865-867)ggA>ggT	p.G289G		NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3																		AACTTTATGGATACCATTCTC	0.323000													6	241					0	0	0.001984	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627258	43627258	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:43627258G>T	ENST00000332857.6	-	4	1457	c.1429C>A	c.(1429-1431)Ccc>Acc	p.P477T		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GAAATAAAGGGTTGGCGGTGG	0.522000													9	534					0.00448238	0.00504528	0.004482	1	0
SYNJ1	8867	broad.mit.edu	37	21	34072212	34072212	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr21:34072212A>T	ENST00000382499.2	-	4	531	c.532T>A	c.(532-534)Tta>Ata	p.L178I	SYNJ1_ENST00000357345.3_Missense_Mutation_p.L139I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.L139I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.L178I|SYNJ1_ENST00000382491.3_Missense_Mutation_p.L139I	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	139	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTCAAATCTAAACTGATGCCA	0.388000													6	24					0	0	0.001168	0	0
SNTA1	6640	broad.mit.edu	37	20	32026759	32026759	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:32026759G>A	ENST00000217381.2	-	2	655	c.384C>T	c.(382-384)gcC>gcT	p.A128A		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	128	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CCACAAAAAGGGCCTCTGTCT	0.542000													5	305					0	0	0.000602	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778509	31778509	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:31778509G>T	ENST00000375654.4	-	2	1430	c.1241C>A	c.(1240-1242)gCc>gAc	p.A414D	HSPA1L_ENST00000417199.3_Missense_Mutation_p.A414D	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	414					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTTTATCAGGGCAGTCATCAC	0.597000													21	226					2.37509e-13	3.09017e-13	0.001523	1	0
ANKRD36	375248	broad.mit.edu	37	2	97845475	97845475	+	Splice_Site	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:97845475T>G	ENST00000420699.2	+	23	1878	c.1633_splice	c.e23-1	p.V545_splice	ANKRD36_ENST00000461153.2_Splice_Site_p.V545_splice	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	545										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TGCTTTTCAGTGTCTTCTCAG	0.299000													4	36					0	0	0.003080	0	0
NPIPB5	100132247	broad.mit.edu	37	16	22545874	22545874	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:22545874C>T	ENST00000424340.1	+	7	1849	c.1570C>T	c.(1570-1572)Ccc>Tcc	p.P524S	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.P524S	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		TGCCCTTCCACCCTCAGCAGA	0.577000													22	545					0	0	0.001882	0	0
HRH2	3274	broad.mit.edu	37	5	175110708	175110708	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:175110708T>A	ENST00000231683.2	+	1	2245	c.472T>A	c.(472-474)Tgg>Agg	p.W158R	HRH2_ENST00000377291.2_Missense_Mutation_p.W158R	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	158					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CCACCTGGGGTGGAACAGCAG	0.547000													15	43					0	0	0.002450	0	0
SLC17A1	6568	broad.mit.edu	37	6	25826725	25826725	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:25826725G>A	ENST00000244527.4	-	3	286	c.171C>T	c.(169-171)ccC>ccT	p.P57P	SLC17A1_ENST00000468082.1_Silent_p.P57P|SLC17A1_ENST00000427328.1_Silent_p.P57P|SLC17A1_ENST00000476801.1_Silent_p.P57P	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	57					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TGGAGGTGTTGGGCAAACCAT	0.408000													56	176					0	0	0.003610	0	0
LRRC32	2615	broad.mit.edu	37	11	76371159	76371159	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:76371159A>T	ENST00000407242.2	-	3	1720	c.1478T>A	c.(1477-1479)tTg>tAg	p.L493*	LRRC32_ENST00000260061.5_Nonsense_Mutation_p.L493*|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Nonsense_Mutation_p.L493*|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	493						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGGACCTCCAAGGAGGCCTC	0.652000													7	31					0	0	0.001984	0	0
NOD2	64127	broad.mit.edu	37	16	50733835	50733835	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:50733835C>T	ENST00000300589.2	+	2	615	c.510C>T	c.(508-510)atC>atT	p.I170I	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	170	CARD 2.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GTGATGAAATCAGGTTGCCGA	0.552000													19	41					0	0	0.008871	0	0
EVC2	132884	broad.mit.edu	37	4	5627547	5627547	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:5627547C>T	ENST00000310917.2	-	13	2466	c.1735G>A	c.(1735-1737)Gac>Aac	p.D579N	EVC2_ENST00000344408.5_Missense_Mutation_p.D659N|EVC2_ENST00000344938.1_Missense_Mutation_p.D659N	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	659						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGCTTTAAGTCATTGTCCAAC	0.388000													19	124					0	0	0.008871	0	0
HPDL	84842	broad.mit.edu	37	1	45792887	45792887	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:45792887C>T	ENST00000334815.3	+	1	343	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	23					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					GCCCCTAGCCCGGAACCTGCA	0.697000													14	19					0	0	0.004007	0	0
GRIA4	2893	broad.mit.edu	37	11	105623796	105623796	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:105623796T>A	ENST00000393127.2	+	4	783	c.337T>A	c.(337-339)Tta>Ata	p.L113I	GRIA4_ENST00000393125.2_Missense_Mutation_p.L113I|GRIA4_ENST00000525187.1_Missense_Mutation_p.L113I|GRIA4_ENST00000428631.2_Missense_Mutation_p.L113I|GRIA4_ENST00000282499.5_Missense_Mutation_p.L113I|GRIA4_ENST00000530497.1_Missense_Mutation_p.L113I	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	113					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CTGCAGCGCCTTACATATCTC	0.463000													18	72					0	0	0.004990	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213277842	213277842	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:213277842A>T	ENST00000366960.3	+	4	459	c.309A>T	c.(307-309)gaA>gaT	p.E103D	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.E91D	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	103	PX.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AATGTGCTGAAGACCTGCTAC	0.353000													4	59					0	0	0.000602	0	0
CELF2	10659	broad.mit.edu	37	10	11047387	11047387	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr10:11047387G>A	ENST00000379261.4	+	1	129	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	CELF2_ENST00000416382.2_Missense_Mutation_p.E13K	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	13	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TATGAGAAATGAAGAGCTGCT	0.398000													41	147					0	0	0.002522	0	0
RPAP1	26015	broad.mit.edu	37	15	41814044	41814044	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:41814044G>C	ENST00000304330.4	-	21	3046	c.2930C>G	c.(2929-2931)gCc>gGc	p.A977G	RPAP1_ENST00000561603.1_Missense_Mutation_p.A977G	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	977	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ATGATAGAGGGCAGCATGGGT	0.602000													3	26					0	0	0.004672	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500299	48500299	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:48500299G>A	ENST00000396577.3	+	2	598	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	SLC12A1_ENST00000330289.6_Missense_Mutation_p.R128Q|SLC12A1_ENST00000380993.3_Missense_Mutation_p.R128Q|SLC12A1_ENST00000561031.1_Missense_Mutation_p.R128Q|SLC12A1_ENST00000558405.1_Missense_Mutation_p.R128Q	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	128					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AAGGTCAACCGACCCAGCCTG	0.473000													13	48					0	0	0.001855	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926242	67926242	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:67926242C>A	ENST00000304363.4	-	11	1924	c.1571G>T	c.(1570-1572)gGt>gTt	p.G524V		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CGAATGAGCACCTCTCACAGG	0.552000													4	129					1.23904e-05	1.49924e-05	0.000602	1	0
COG4	25839	broad.mit.edu	37	16	70548314	70548314	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:70548314C>A	ENST00000323786.5	-	4	489	c.468G>T	c.(466-468)gaG>gaT	p.E156D	COG4_ENST00000393612.4_Missense_Mutation_p.E152D|COG4_ENST00000564653.1_Missense_Mutation_p.E156D	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	152					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CTGCAGCCTGCTCATAATCTT	0.507000													11	50					3.07112e-06	3.75359e-06	0.000978	1	0
RTN4R	65078	broad.mit.edu	37	22	20229737	20229737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr22:20229737G>A	ENST00000043402.7	-	2	1357	c.919C>T	c.(919-921)Cag>Tag	p.Q307*		NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	307	LRRCT.				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GCGCAGCCCTGCAGGTCATTG	0.682000													7	12					0	0	0.001984	0	0
OR8K5	219453	broad.mit.edu	37	11	55927529	55927529	+	Nonsense_Mutation	SNP	G	G	A	rs147577134		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:55927529G>A	ENST00000313447.1	-	1	264	c.265C>T	c.(265-267)Cga>Tga	p.R89*		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R89R(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATAGTATTTCGATCCACAACA	0.393000													13	65					0	0	0.001855	0	0
USP40	55230	broad.mit.edu	37	2	234465540	234465540	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:234465540C>G	ENST00000251722.6	-	5	624	c.507G>C	c.(505-507)caG>caC	p.Q169H	USP40_ENST00000427112.2_Missense_Mutation_p.Q169H|USP40_ENST00000450966.1_Missense_Mutation_p.Q181H			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	169					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TACAAACAATCTGGTTAACAA	0.368000													10	39					0	0	0.006214	0	0
GRHL3	57822	broad.mit.edu	37	1	24669194	24669194	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:24669194G>A	ENST00000361548.4	+	10	1447	c.1217G>A	c.(1216-1218)aGg>aAg	p.R406K	GRHL3_ENST00000356046.2_Missense_Mutation_p.R360K|GRHL3_ENST00000350501.5_Missense_Mutation_p.R406K|GRHL3_ENST00000342072.4_Missense_Mutation_p.R313K|GRHL3_ENST00000236255.4_Missense_Mutation_p.R411K	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	406					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GGAGCTGAGAGGAAGATGCGC	0.597000													5	126					0	0	0.001168	0	0
FAM53A	152877	broad.mit.edu	37	4	1656773	1656773	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:1656773G>A	ENST00000308132.6	-	4	1006	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	FAM53A_ENST00000489363.1_Missense_Mutation_p.R272C|FAM53A_ENST00000472884.2_Missense_Mutation_p.R272C|FAM53A_ENST00000461064.1_Missense_Mutation_p.R272C	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	272						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CTCCGTTTGCGCCGGCTCCTC	0.667000													11	40					0	0	0.001368	0	0
DIS3L2	129563	broad.mit.edu	37	2	233128057	233128057	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:233128057C>T	ENST00000325385.7	+	13	1842	c.1566C>T	c.(1564-1566)agC>agT	p.S522S	DIS3L2_ENST00000273009.6_Silent_p.S522S|DIS3L2_ENST00000409307.1_Silent_p.S522S	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	522							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AGCATAGCAGCGAGGAGGTAC	0.542000													14	59					0	0	0.003163	0	0
XDH	7498	broad.mit.edu	37	2	31600014	31600014	+	Silent	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:31600014T>A	ENST00000379416.3	-	14	1380	c.1332A>T	c.(1330-1332)ccA>ccT	p.P444P		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	444					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTGTGGTTCCTGGCTTGAATA	0.502000													6	94					0	0	0.001168	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102552329	102552329	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:102552329T>C	ENST00000334701.7	-	4	942	c.661A>G	c.(661-663)Acc>Gcc	p.T221A	HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.T99A	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	99					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TCAGCCTTGGTCATTCCAATT	0.433000													4	85					0	0	0.000248	0	0
ELMO1	9844	broad.mit.edu	37	7	37250998	37250998	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:37250998C>T	ENST00000310758.4	-	13	1726	c.1079G>A	c.(1078-1080)gGg>gAg	p.G360E	ELMO1_ENST00000442504.1_Missense_Mutation_p.G360E|ELMO1_ENST00000448602.1_Missense_Mutation_p.G360E	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	360	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TACAATGAACCCAAGCTTCTT	0.507000													4	52					0	0	0.000248	0	0
SLC9A8	23315	broad.mit.edu	37	20	48500552	48500552	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:48500552G>T	ENST00000417961.1	+	14	1698	c.1488G>T	c.(1486-1488)aaG>aaT	p.K496N	SLC9A8_ENST00000541138.1_Missense_Mutation_p.K180N|SLC9A8_ENST00000361573.2_Missense_Mutation_p.K480N|SLC9A8_ENST00000539601.1_Missense_Mutation_p.K261N	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	480						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			AGGACGCCAAGGCACACCGCA	0.612000													5	175					5.9392e-07	7.3707e-07	0.001168	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68272337	68272337	+	Splice_Site	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:68272337T>C	ENST00000347230.4	-	7	1156		c.e7-2		ZFYVE26_ENST00000555452.1_Splice_Site	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26						cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGCTGTTACCTGTAAGTCAAA	0.428000													7	54					0	0	0.001984	0	0
PLG	5340	broad.mit.edu	37	6	161143527	161143527	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:161143527G>T	ENST00000308192.9	+	10	1247	c.1184G>T	c.(1183-1185)gGa>gTa	p.G395V		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	395	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACCACCACAGGAAAGAAGTGT	0.493000													11	112					3.86212e-05	4.58153e-05	0.008291	1	0
NUP133	55746	broad.mit.edu	37	1	229637829	229637829	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:229637829T>C	ENST00000261396.3	-	3	413	c.322A>G	c.(322-324)Aac>Gac	p.N108D	NUP133_ENST00000537506.1_Missense_Mutation_p.N92D|NUP133_ENST00000366679.1_Missense_Mutation_p.N108D|NUP133_ENST00000366678.3_Missense_Mutation_p.N108D	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	108					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TCATCTATGTTAATGGTCAGC	0.363000													8	113					0	0	0.003080	0	0
HCN1	348980	broad.mit.edu	37	5	45262321	45262321	+	Missense_Mutation	SNP	G	G	A	rs140758934		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:45262321G>A	ENST00000303230.4	-	8	2432	c.2375C>T	c.(2374-2376)tCg>tTg	p.S792L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	792						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATGGGGCAGCGAGGGCTGCGA	0.637000													13	151					0	0	0.001855	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39280340	39280340	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:39280340T>C	ENST00000394014.1	-	1	79	c.35A>G	c.(34-36)gAc>gGc	p.D12G		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	12	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACAGCCCTGGTCAGAGCACAC	0.617000													23	108					0	0	0.003330	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509169	110509169	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:110509169A>T	ENST00000378402.5	+	64	10453	c.10349A>T	c.(10348-10350)aAg>aTg	p.K3450M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3450					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTGTGGAAAAGTGGTTTGAC	0.373000										HNSCC(38;0.096)			22	106					0	0	0.002780	0	0
FAM83A	84985	broad.mit.edu	37	8	124219421	124219421	+	Silent	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:124219421G>C	ENST00000518448.1	+	5	2812	c.798G>C	c.(796-798)gtG>gtC	p.V266V	FAM83A_ENST00000522648.1_Silent_p.V210V|FAM83A_ENST00000318462.6_Silent_p.V266V|FAM83A_ENST00000536633.1_Silent_p.V266V|FAM83A_ENST00000546351.1_Silent_p.V210V|FAM83A_ENST00000276699.6_Silent_p.V266V			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	266										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCGGACACGTGCACCGGAACA	0.622000													7	9					0	0	0.004482	0	0
DCLK1	9201	broad.mit.edu	37	13	36382386	36382386	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr13:36382386C>A	ENST00000255448.4	-	14	2049	c.1838G>T	c.(1837-1839)tGg>tTg	p.W613L	DCLK1_ENST00000379893.1_Missense_Mutation_p.W306L|DCLK1_ENST00000360631.3_Missense_Mutation_p.W613L	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	613	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AACATTATCCCAGTATGGAGA	0.428000													6	139					8.12818e-05	9.59522e-05	0.001984	1	0
ATP1A3	478	broad.mit.edu	37	19	42471441	42471441	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:42471441G>A	ENST00000545399.1	-	22	3165	c.3012C>T	c.(3010-3012)taC>taT	p.Y1004Y	ATP1A3_ENST00000543770.1_Silent_p.Y1002Y|ATP1A3_ENST00000302102.5_Silent_p.Y991Y|ATP1A3_ENST00000602133.1_Silent_p.Y961Y	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	991					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGATTTCGTCGTAGACGAAGA	0.652000													22	29					0	0	0.001882	0	0
ATR	545	broad.mit.edu	37	3	142215313	142215313	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:142215313C>T	ENST00000350721.4	-	34	5909	c.5788G>A	c.(5788-5790)Gta>Ata	p.V1930I	ATR_ENST00000383101.3_Missense_Mutation_p.V1866I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1930	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTTCTAGCTACCCTGGCACTC	0.488000								Other conserved DNA damage response genes					4	97					0	0	0.000248	0	0
NUDT19	390916	broad.mit.edu	37	19	33200163	33200163	+	Missense_Mutation	SNP	G	G	A	rs149924778	by1000genomes	TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:33200163G>A	ENST00000397061.3	+	2	787	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	263	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					ACAGTTCTACGAAGTGAGAAG	0.443000													11	234					0	0	0.008291	0	0
DLST	1743	broad.mit.edu	37	14	75369021	75369021	+	Silent	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:75369021C>G	ENST00000334220.4	+	15	1411	c.1350C>G	c.(1348-1350)ctC>ctG	p.L450L	DLST_ENST00000334212.6_Silent_p.L364L	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	450					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	p.L450L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		GAGTCCTCCTCCTGGATCTTT	0.547000													15	56					0	0	0.006122	0	0
CARD6	84674	broad.mit.edu	37	5	40852441	40852441	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:40852441G>A	ENST00000254691.5	+	3	1206	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	336					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GTTCAAGCACGAGATGTGACC	0.458000													12	83					0	0	0.001368	0	0
OR13D1	286365	broad.mit.edu	37	9	107457531	107457531	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:107457531T>A	ENST00000318763.5	+	1	872	c.829T>A	c.(829-831)Tcg>Acg	p.S277T		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	277			S -> L (in dbSNP:rs10761073).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TTCAGCGCACTCGATTGTGGT	0.388000													6	97					0	0	0.001168	0	0
CLCA2	9635	broad.mit.edu	37	1	86904619	86904619	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:86904619A>T	ENST00000370565.4	+	7	1195	c.1033A>T	c.(1033-1035)Att>Ttt	p.I345F		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	345	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GATTGTTGAAATTCATACCTT	0.418000													6	73					0	0	0.001984	0	0
DDI2	84301	broad.mit.edu	37	1	15959965	15959965	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:15959965G>A	ENST00000480945.1	+	4	708	c.537G>A	c.(535-537)caG>caA	p.Q179Q		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	179					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TGGAGCAGCAGCAGGACCGAG	0.398000													5	322					0	0	0.001168	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													5	84					0	0	0.001984	0	0
SLC5A7	60482	broad.mit.edu	37	2	108625031	108625031	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:108625031G>T	ENST00000264047.2	+	8	1282	c.1006G>T	c.(1006-1008)Ggt>Tgt	p.G336C	SLC5A7_ENST00000540517.1_Missense_Mutation_p.G231C|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G336C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	336					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTCTTTCTTTGGTCTTGGTGC	0.443000													9	39					0.00448238	0.00504528	0.004482	1	0
PSD2	84249	broad.mit.edu	37	5	139193154	139193154	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:139193154C>A	ENST00000274710.3	+	3	837	c.632C>A	c.(631-633)gCa>gAa	p.A211E		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	211					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACATGGGGGCAGCTGGTGGT	0.687000													4	52					0.000602214	0.000690691	0.000602	1	0
OR5V1	81696	broad.mit.edu	37	6	29323045	29323045	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:29323045G>C	ENST00000377154.1	-	4	1227	c.928C>G	c.(928-930)Cca>Gca	p.P310A	OR5V1_ENST00000543825.1_Missense_Mutation_p.P310A			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAAATTGGTGGCTGCCACTTG	0.368000													4	113					0	0	0.000248	0	0
MACF1	23499	broad.mit.edu	37	1	39844998	39844998	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:39844998A>T	ENST00000564288.1	+	54	14177	c.13400A>T	c.(13399-13401)aAg>aTg	p.K4467M	MACF1_ENST00000289893.4_Missense_Mutation_p.K2907M|MACF1_ENST00000372915.3_Missense_Mutation_p.K4472M|MACF1_ENST00000317713.7_Missense_Mutation_p.K2405M|MACF1_ENST00000545844.1_Missense_Mutation_p.K2405M|MACF1_ENST00000539005.1_Missense_Mutation_p.K2384M|MACF1_ENST00000361689.2_Missense_Mutation_p.K2405M|MACF1_ENST00000567887.1_Missense_Mutation_p.K4504M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4472					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGGTTCACAAGGAGGCAAAC	0.468000													7	286					0	0	0.003080	0	0
LOC101927648	101927648	broad.mit.edu	37	1	143403554	143403554	+	RNA	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:143403554T>G	ENST00000423249.1	-	0	59																											GGAACAGGATTTCTTTGGCCA	0.468000													2	10					0	0	0.004672	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62652607	62652607	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr10:62652607T>C	ENST00000337910.5	-	5	780	c.443A>G	c.(442-444)gAc>gGc	p.D148G	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.D148G	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	148	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AGCTTCCAGGTCGGCATAGCG	0.498000													12	47					0	0	0.001855	0	0
LYST	1130	broad.mit.edu	37	1	235827826	235827826	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:235827826T>C	ENST00000389794.3	-	51	11308	c.11134A>G	c.(11134-11136)Aac>Gac	p.N3712D	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.N3712D			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3712					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCAGGCTGGTTGGAGAAAGCC	0.468000													4	58					0	0	0.000248	0	0
KIF6	221458	broad.mit.edu	37	6	39512320	39512320	+	Silent	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:39512320A>T	ENST00000538893.1	-	12	1461	c.1437T>A	c.(1435-1437)tcT>tcA	p.S479S	KIF6_ENST00000373216.3_Intron|KIF6_ENST00000373213.4_Intron|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000287152.7_Intron			Q6ZMV9	KIF6_HUMAN	kinesin family member 6	479					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCATCACTTCAGAAAGGATAC	0.408000													38	32					0	0	0.005524	0	0
TCFL5	10732	broad.mit.edu	37	20	61490757	61490757	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:61490757C>G	ENST00000335351.3	-	3	1045	c.953G>C	c.(952-954)aGa>aCa	p.R318T	TCFL5_ENST00000217162.5_Missense_Mutation_p.R270T	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	318					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					AACTTTGTTTCTACTACCTAA	0.443000													35	329					0	0	0.004289	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139015	101139015	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chrX:101139015C>T	ENST00000372782.3	-	7	1431	c.1384G>A	c.(1384-1386)Gtg>Atg	p.V462M	ZMAT1_ENST00000540921.1_Missense_Mutation_p.V462M|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.V291M	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	291						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TGGTTTTCCACTACTTGTGAA	0.413000													31	34					0	0	0.002096	0	0
HIST1H3E	8353	broad.mit.edu	37	6	26225492	26225492	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:26225492A>T	ENST00000360408.1	+	1	110	c.110A>T	c.(109-111)aAg>aTg	p.K37M		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	37					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GGCGGCGTGAAGAAGCCCCAT	0.627000													87	56					0	0	0.003610	0	0
SLAIN2	57606	broad.mit.edu	37	4	48380075	48380075	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:48380075C>G	ENST00000264313.6	+	3	1119	c.701C>G	c.(700-702)tCa>tGa	p.S234*	SLAIN2_ENST00000506375.1_3'UTR|SLAIN2_ENST00000512093.1_Nonsense_Mutation_p.S41*	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	234						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CCTGGAAATTCAGGTAAGGAG	0.398000													3	128					0	0	0.004672	0	0
RASA2	5922	broad.mit.edu	37	3	141328366	141328366	+	Splice_Site	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:141328366G>T	ENST00000286364.3	+	22	2364		c.e22+1		RASA2_ENST00000452898.1_Splice_Site|RASA2_ENST00000509118.1_Splice_Site			Q15283	RASA2_HUMAN	RAS p21 protein activator 2						intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AAGATGGAAGGTAAATACACA	0.303000													5	54					3.59834e-05	4.28964e-05	0.001168	1	0
RANBP10	57610	broad.mit.edu	37	16	67778258	67778258	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:67778258G>A	ENST00000536251.1	-	0	974				RANBP10_ENST00000411657.2_Silent_p.D50D|RANBP10_ENST00000317506.3_Silent_p.D167D|RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000602677.1_Silent_p.D167D|RANBP10_ENST00000448631.2_Intron|RANBP10_ENST00000425512.2_Silent_p.D35D			Q6VN20	RBP10_HUMAN	RAN binding protein 10											endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		AGCCGATCACGTCTCCTGTGG	0.547000													19	79					0	0	0.007413	0	0
AGAP1	116987	broad.mit.edu	37	2	236877176	236877176	+	Silent	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:236877176G>C	ENST00000409538.1	+	12	2686	c.2190G>C	c.(2188-2190)ccG>ccC	p.P730P	AGAP1_ENST00000304032.7_Silent_p.P518P|AGAP1_ENST00000428334.2_Silent_p.P357P|AGAP1_ENST00000336665.5_Silent_p.P465P			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	518					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGCTCGACCCGCCCCCCTCCC	0.577000													4	54					0	0	0.000248	0	0
UTP20	27340	broad.mit.edu	37	12	101732715	101732715	+	Silent	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:101732715A>G	ENST00000261637.4	+	31	4167	c.3993A>G	c.(3991-3993)aaA>aaG	p.K1331K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1331					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAGTCAGTAAAGAGCTTGGCA	0.328000													19	36					0	0	0.006122	0	0
STAG1	10274	broad.mit.edu	37	3	136219098	136219098	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:136219098G>C	ENST00000383202.2	-	9	1125	c.869C>G	c.(868-870)tCt>tGt	p.S290C	STAG1_ENST00000236698.5_Missense_Mutation_p.S290C|STAG1_ENST00000434713.2_Missense_Mutation_p.S64C	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	290					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CTTAAAAATAGAGTTCATCAT	0.279000													4	8					0	0	0.000248	0	0
TUBB3	10381	broad.mit.edu	37	16	90001910	90001910	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:90001910G>T	ENST00000304984.5	+	3	3130	c.835G>T	c.(835-837)Gtg>Ttg	p.V279L	TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000554444.1_Missense_Mutation_p.V279L|TUBB3_ENST00000556922.1_Missense_Mutation_p.V698L|TUBB3_ENST00000315491.7_Missense_Mutation_p.V351L			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	351					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CAACGTGAAGGTGGCCGTGTG	0.612000													15	250					0.000308642	0.000357375	0.003163	1	0
FGFR2	2263	broad.mit.edu	37	10	123310907	123310907	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr10:123310907G>T	ENST00000358487.5	-	5	793	c.521C>A	c.(520-522)aCt>aAt	p.T174N	FGFR2_ENST00000369060.4_Missense_Mutation_p.T174N|FGFR2_ENST00000346997.2_Missense_Mutation_p.T174N|FGFR2_ENST00000369059.1_Missense_Mutation_p.T59N|FGFR2_ENST00000357555.5_Missense_Mutation_p.T85N|FGFR2_ENST00000369061.4_Missense_Mutation_p.T174N|FGFR2_ENST00000356226.4_Missense_Mutation_p.T59N|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369056.1_Missense_Mutation_p.T174N|FGFR2_ENST00000351936.6_Missense_Mutation_p.T174N|FGFR2_ENST00000360144.3_Missense_Mutation_p.T85N|FGFR2_ENST00000359354.2_Missense_Mutation_p.T174N|FGFR2_ENST00000457416.2_Missense_Mutation_p.T174N	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	174	Heparin-binding.|Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	AAACTTGACAGTGTTGGCCGC	0.517000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				15	81					1.15088e-07	1.45059e-07	0.004007	1	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													4	62					0.00024832	0.000290306	0.000248	1	0
HP	3240	broad.mit.edu	37	16	72094609	72094609	+	Silent	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:72094609A>G	ENST00000355906.5	+	7	1099	c.1041A>G	c.(1039-1041)caA>caG	p.Q347Q	HP_ENST00000565574.1_Silent_p.Q288Q|HP_ENST00000570083.1_Silent_p.Q288Q|HPR_ENST00000356967.5_Intron|HP_ENST00000562526.1_3'UTR|HP_ENST00000398131.2_Silent_p.Q288Q	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	347	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		CTAAGTACCAAGAAGACACCT	0.537000													8	115					0	0	0.006214	0	0
VAV3	10451	broad.mit.edu	37	1	108307728	108307728	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:108307728C>T	ENST00000370056.4	-	9	1165	c.891G>A	c.(889-891)aaG>aaA	p.K297K	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Silent_p.K297K|VAV3_ENST00000371846.4_Silent_p.K232K	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	297	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTTCTTTTGTCTTAGAAATGT	0.338000													6	41					0	0	0.001984	0	0
THSD7A	221981	broad.mit.edu	37	7	11630196	11630196	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:11630196G>A	ENST00000423059.3	-	4	1595	c.1344C>T	c.(1342-1344)cgC>cgT	p.R448R		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	448	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTGGTTGCCGCGCCTCTTGT	0.557000										HNSCC(18;0.044)			10	48					0	0	0.008291	0	0
CLDN18	51208	broad.mit.edu	37	3	137749921	137749921	+	Missense_Mutation	SNP	G	G	A	rs141484279		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:137749921G>A	ENST00000183605.5	+	5	950	c.724G>A	c.(724-726)Gat>Aat	p.D242N	CLDN18_ENST00000343735.4_Missense_Mutation_p.D242N	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	242					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GAAGATATACGATGGAGGTGC	0.517000													27	149					0	0	0.007291	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													5	56					0	0	0.000602	0	0
LEPR	3953	broad.mit.edu	37	1	66074565	66074565	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:66074565G>T	ENST00000349533.6	+	12	1918	c.1733G>T	c.(1732-1734)gGa>gTa	p.G578V	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.G578V|LEPR_ENST00000371059.3_Missense_Mutation_p.G578V|LEPR_ENST00000371060.3_Missense_Mutation_p.G578V|LEPR_ENST00000344610.8_Missense_Mutation_p.G578V|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	578	Fibronectin type-III 2.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GGTTTAAGTGGAAAAGAAGTA	0.303000													16	28					1.33834e-09	1.71364e-09	0.007413	1	0
MYH1	4619	broad.mit.edu	37	17	10395815	10395815	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:10395815C>T	ENST00000226207.5	-	40	5832	c.5738G>A	c.(5737-5739)cGg>cAg	p.R1913Q	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1913						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AATGTCAGCCCGTTCCTCGGC	0.483000													4	165					0	0	0.000602	0	0
TMEM120B	144404	broad.mit.edu	37	12	122213541	122213541	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:122213541C>T	ENST00000540377.1	+	6	439	c.43C>T	c.(43-45)Cat>Tat	p.H15Y	TMEM120B_ENST00000449592.2_Silent_p.L311L			A0PK00	T120B_HUMAN	transmembrane protein 120B	0						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TCACCTTCCTCATCCTCTTCC	0.612000											OREG0022207	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	60					0	0	0.005524	0	0
MLLT6	4302	broad.mit.edu	37	17	36868952	36868952	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:36868952G>A	ENST00000325718.7	+	8	820	c.729G>A	c.(727-729)aaG>aaA	p.K243K	MLLT6_ENST00000378137.5_Silent_p.K243K	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	243					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGAGTCGAAAGGACAAAGAAC	0.592000			T	MLL	AL								4	80					0	0	0.000248	0	0
TRGC2	6967	broad.mit.edu	37	7	38282073	38282073	+	RNA	SNP	A	A	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:38282073A>C	ENST00000436911.2	-	0	381																											CATTGTGATGACATCTAGAAG	0.338000													8	207					0	0	0.004482	0	0
FAT2	2196	broad.mit.edu	37	5	150885203	150885203	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:150885203G>A	ENST00000261800.5	-	23	12985	c.12973C>T	c.(12973-12975)Ccc>Tcc	p.P4325S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4325					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCACCCGGGGCTGGCCCTGG	0.622000													16	18					0	0	0.004007	0	0
EMR1	2015	broad.mit.edu	37	19	6926416	6926416	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:6926416T>G	ENST00000312053.4	+	16	2063	c.2026T>G	c.(2026-2028)Ttc>Gtc	p.F676V	EMR1_ENST00000250572.8_Missense_Mutation_p.F611V|EMR1_ENST00000381407.5_Missense_Mutation_p.F535V|EMR1_ENST00000450315.3_Missense_Mutation_p.F499V|EMR1_ENST00000381404.4_Missense_Mutation_p.F624V	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	676					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GCACTACCTTTTCCTTGCCTG	0.517000													16	78					0	0	0.008871	0	0
C7orf50	84310	broad.mit.edu	37	7	1037377	1037377	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:1037377C>A	ENST00000397098.3	-	5	1395	c.469G>T	c.(469-471)Gag>Tag	p.E157*	C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Nonsense_Mutation_p.E157*|C7orf50_ENST00000397100.2_Nonsense_Mutation_p.E157*			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	157							protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		ACCGTCAGCTCTCGGGCCCGG	0.687000													5	100					0.00116845	0.00132753	0.001168	1	0
EPHA5	2044	broad.mit.edu	37	4	66213889	66213889	+	Silent	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:66213889T>A	ENST00000273854.3	-	15	3141	c.2541A>T	c.(2539-2541)ccA>ccT	p.P847P	EPHA5_ENST00000354839.4_Silent_p.P825P|EPHA5_ENST00000432638.2_Silent_p.P684P|EPHA5_ENST00000511294.1_Silent_p.P848P	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	847	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTATTGCTTCTGGGGCAGTCC	0.413000										TSP Lung(17;0.13)			13	50					0	0	0.001368	0	0
ARRDC2	27106	broad.mit.edu	37	19	18119198	18119198	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:18119198G>A	ENST00000222250.4	+	1	222	c.79G>A	c.(79-81)Ggc>Agc	p.G27S	ARRDC2_ENST00000379656.2_Intron|ARRDC2_ENST00000595712.1_Intron	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	27										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GTTTAGCGGCGGCCAGGCCGT	0.726000													8	26					0	0	0.004482	0	0
UMOD	7369	broad.mit.edu	37	16	20347992	20347992	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:20347992T>C	ENST00000396134.2	-	10	2020	c.1897A>G	c.(1897-1899)Aac>Gac	p.N633D	UMOD_ENST00000396142.2_Missense_Mutation_p.N600D|UMOD_ENST00000570689.1_Missense_Mutation_p.N600D|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Missense_Mutation_p.N633D|UMOD_ENST00000302509.4_Missense_Mutation_p.N600D|UMOD_ENST00000396138.4_Missense_Mutation_p.N649D	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	600					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGACCCAAGTTCAGGACACGG	0.527000													6	47					0	0	0.001168	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68272336	68272336	+	Splice_Site	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:68272336C>A	ENST00000347230.4	-	7	1156		c.e7-1		ZFYVE26_ENST00000555452.1_Splice_Site	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26						cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTGCTGTTACCTGTAAGTCAA	0.433000													7	54					2.0095e-06	2.46852e-06	0.001984	1	0
ASPH	444	broad.mit.edu	37	8	62556539	62556539	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:62556539T>G	ENST00000541428.1	-	8	747	c.587A>C	c.(586-588)gAt>gCt	p.D196A	ASPH_ENST00000518068.1_Missense_Mutation_p.D182A|ASPH_ENST00000445642.3_Missense_Mutation_p.D211A|ASPH_ENST00000379454.4_Missense_Mutation_p.D225A|ASPH_ENST00000522835.1_Missense_Mutation_p.D168A|ASPH_ENST00000356457.5_Missense_Mutation_p.D225A|ASPH_ENST00000522919.1_Missense_Mutation_p.D38A|ASPH_ENST00000517847.2_Missense_Mutation_p.D211A|ASPH_ENST00000517903.1_Missense_Mutation_p.D211A	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	225	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTCTTCCATATCCTGATTACA	0.328000													7	19					0	0	0.003080	0	0
SCN11A	11280	broad.mit.edu	37	3	38888436	38888436	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:38888436C>G	ENST00000450244.1	-	26	5323	c.5125G>C	c.(5125-5127)Gag>Cag	p.E1709Q	SCN11A_ENST00000456224.3_Missense_Mutation_p.E1671Q|SCN11A_ENST00000302328.3_Missense_Mutation_p.E1709Q			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1709					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGAACTTCTCTTCCATCATT	0.458000													30	95					0	0	0.007291	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102384193	102384193	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:102384193C>T	ENST00000422945.2	+	15	1541	c.1445C>T	c.(1444-1446)aCc>aTc	p.T482I	PPP2R5C_ENST00000350249.3_Intron|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.T451I|PPP2R5C_ENST00000328724.5_Intron	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	451					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAAGCCAGCACCATGAGCATT	0.502000													45	108					0	0	0.003214	0	0
SYNC	81493	broad.mit.edu	37	1	33149862	33149862	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:33149862T>C	ENST00000373484.3	-	3	1454	c.1355A>G	c.(1354-1356)tAt>tGt	p.Y452C	RBBP4_ENST00000373493.5_3'UTR|SYNC_ENST00000409190.3_Missense_Mutation_p.Y452C	NM_001161708.1	NP_001155180.1	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	452	Coil 2.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						AACTGACTTATAAGTAGAGAG	0.433000													139	187					0	0	0.003610	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117789510	117789510	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:117789510G>C	ENST00000528626.1	-	2	138	c.65C>G	c.(64-66)gCc>gGc	p.A22G	TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A22G|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A22G|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.A22G|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A22G	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	22	12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		AGATGCCTGGGCTGGAGATGC	0.627000													9	52					0	0	0.006214	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390542	61390542	+	RNA	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr18:61390542C>T	ENST00000544088.1	+	0	1150				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CCAATGAGAGCTCAGTTCAAG	0.517000													29	66					0	0	0.007291	0	0
CORO2A	7464	broad.mit.edu	37	9	100895440	100895440	+	Silent	SNP	A	A	G	rs143485689		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:100895440A>G	ENST00000343933.5	-	5	785	c.528T>C	c.(526-528)atT>atC	p.I176I	CORO2A_ENST00000375077.4_Silent_p.I176I	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	176					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGTGACAGCTAATCGTACTCA	0.542000													5	102					0	0	0.001168	0	0
KIAA0196	9897	broad.mit.edu	37	8	126091066	126091066	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:126091066C>T	ENST00000318410.7	-	6	974	c.625G>A	c.(625-627)Gag>Aag	p.E209K	KIAA0196_ENST00000517845.1_Missense_Mutation_p.E61K	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	209					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAATAGCTCTCGGGATAGTTG	0.423000													17	53					0	0	0.006122	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67860602	67860602	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:67860602C>A	ENST00000388833.3	+	12	1624	c.1247C>A	c.(1246-1248)aCg>aAg	p.T416K	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.T470K|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.T401K	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	416					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CAGAAAGAGACGTTCCCAGAT	0.493000													42	83					3.43241e-23	4.56398e-23	0.002222	1	0
TGFBR2	7048	broad.mit.edu	37	3	30732963	30732963	+	Nonsense_Mutation	SNP	G	G	T	rs121918714		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:30732963G>T	ENST00000295754.5	+	7	1958	c.1576G>T	c.(1576-1578)Gag>Tag	p.E526*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.E551*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	526	Protein kinase.		E -> Q (in esophageal cancer).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCACGACCCAGAGGCCCGTCT	0.602000													32	26					2.08457e-15	2.74166e-15	0.002096	1	0
AARS2	57505	broad.mit.edu	37	6	44272035	44272035	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:44272035C>T	ENST00000244571.4	-	14	1892	c.1890G>A	c.(1888-1890)gcG>gcA	p.A630A	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	630					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CCGTATGCTTCGCCATGCAGC	0.627000											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	78					0	0	0.002450	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553868	140553868	+	Silent	SNP	C	C	T	rs149570059		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:140553868C>T	ENST00000231137.3	+	1	1626	c.1452C>T	c.(1450-1452)gcC>gcT	p.A484A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		484	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACCAACGCCCAGGTCATCT	0.642000													28	112					0	0	0.005443	0	0
MAN2A2	4122	broad.mit.edu	37	15	91447520	91447520	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:91447520G>A	ENST00000360468.3	+	1	101	c.83G>A	c.(82-84)cGa>cAa	p.R28Q	MAN2A2_ENST00000559717.1_Missense_Mutation_p.R28Q	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	28					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ATGCTGGACCGAGTGCAACAC	0.547000													23	76					0	0	0.002299	0	0
PRKD1	5587	broad.mit.edu	37	14	30046531	30046531	+	Silent	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:30046531C>A	ENST00000331968.5	-	18	2881	c.2652G>T	c.(2650-2652)ctG>ctT	p.L884L	PRKD1_ENST00000415220.2_Silent_p.L892L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	884					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TTGGATTGATCAGGTGTGTGG	0.527000													34	101					1.22384e-17	1.61841e-17	0.002836	1	0
FCRL4	83417	broad.mit.edu	37	1	157557209	157557209	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:157557209A>G	ENST00000271532.1	-	5	839	c.704T>C	c.(703-705)gTc>gCc	p.V235A	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	235	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TGACAGGATGACCTCGCCATC	0.532000													24	289					0	0	0.004656	0	0
ITGA1	3672	broad.mit.edu	37	5	52211331	52211331	+	Missense_Mutation	SNP	T	T	G	rs138709169		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:52211331T>G	ENST00000282588.6	+	15	2353	c.1895T>G	c.(1894-1896)tTt>tGt	p.F632C		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	632					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ACACTGAAATTTTTTGGCCAG	0.423000													3	143					0	0	0.004672	0	0
ATR	545	broad.mit.edu	37	3	142281919	142281919	+	Missense_Mutation	SNP	G	G	A	rs146405935	by1000genomes	TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:142281919G>A	ENST00000350721.4	-	4	446	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	ATR_ENST00000383101.3_Missense_Mutation_p.R109W	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	109					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCTGCAATCCGCAGAAGTCTC	0.313000								Other conserved DNA damage response genes					5	158					0	0	0.000602	0	0
DFNA5	1687	broad.mit.edu	37	7	24758712	24758712	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:24758712T>A	ENST00000545231.1	-	6	1188	c.38A>T	c.(37-39)gAg>gTg	p.E13V	DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.E177V|DFNA5_ENST00000409970.1_Missense_Mutation_p.E13V|DFNA5_ENST00000342947.3_Missense_Mutation_p.E177V|DFNA5_ENST00000419307.1_Missense_Mutation_p.E13V			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	177					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						ACACTTCTCCTCGACCTGCAT	0.577000													29	135					0	0	0.007291	0	0
NOP56	10528	broad.mit.edu	37	20	2636321	2636321	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:2636321A>G	ENST00000329276.5	+	7	1354	c.838A>G	c.(838-840)Agc>Ggc	p.S280G		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	280	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						ATACCGCCAGAGCCTACACAC	0.512000													19	160					0	0	0.007413	0	0
KMT2A	4297	broad.mit.edu	37	11	118377362	118377362	+	Splice_Site	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:118377362G>T	ENST00000534358.1	+	27	10777		c.e27+1		KMT2A_ENST00000389506.5_Splice_Site|KMT2A_ENST00000354520.4_Splice_Site	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CAGGCACAGGGTGAGAGATCC	0.483000													6	78					0.00116845	0.00132753	0.001168	1	0
WDR72	256764	broad.mit.edu	37	15	53998227	53998227	+	Silent	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:53998227T>C	ENST00000396328.1	-	10	1238	c.999A>G	c.(997-999)aaA>aaG	p.K333K	WDR72_ENST00000360509.5_Silent_p.K333K|WDR72_ENST00000559418.1_Silent_p.K343K|WDR72_ENST00000557913.1_Silent_p.K330K	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	333										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAAAAGGCTCTTTCCTTTCAT	0.403000													4	31					0	0	0.000248	0	0
CFHR2	3080	broad.mit.edu	37	1	196927141	196927141	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:196927141T>C	ENST00000367415.4	+	4	665	c.551T>C	c.(550-552)cTt>cCt	p.L184P	CFHR2_ENST00000367421.3_Missense_Mutation_p.L184P|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	184	Sushi 3.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TTGTATCAACTTGAGGGTAAC	0.398000													3	74					0	0	0.004672	0	0
GOSR1	9527	broad.mit.edu	37	17	28849344	28849344	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:28849344G>A	ENST00000225724.5	+	9	773	c.701G>A	c.(700-702)gGg>gAg	p.G234E	GOSR1_ENST00000467337.2_Missense_Mutation_p.G169E|GOSR1_ENST00000581721.1_Missense_Mutation_p.G220E|GOSR1_ENST00000451249.2_Missense_Mutation_p.G232E	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	234					intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						CTCATCCTAGGGGGTGTTATT	0.498000													8	395					0	0	0.004482	0	0
TLR1	7096	broad.mit.edu	37	4	38800207	38800207	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:38800207C>T	ENST00000308979.2	-	4	519	c.246G>A	c.(244-246)caG>caA	p.Q82Q	TLR1_ENST00000502213.2_Silent_p.Q82Q	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	82					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TATCAAGATACTGGATTCTAT	0.343000													8	192					0	0	0.003080	0	0
DNAH5	1767	broad.mit.edu	37	5	13762885	13762885	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:13762885C>T	ENST00000265104.4	-	60	10331	c.10227G>A	c.(10225-10227)tgG>tgA	p.W3409*	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3409	Stalk (By similarity).		W -> S (in CILD3).		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TAGCTTTCGTCCAGGAACAAA	0.448000									Kartagener syndrome				29	106					0	0	0.005443	0	0
TCEB3CL	728929	broad.mit.edu	37	18	44549224	44549224	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr18:44549224G>A	ENST00000451265.1	-	1	1310	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_001100817.1	NP_001094287.1			transcription elongation factor B polypeptide 3C-like											central_nervous_system(1)|lung(1)|prostate(1)	3						ACCGAGTAGGGGACCCCTTCC	0.637000													15	841					0	0	0.001368	0	0
ZFP64	55734	broad.mit.edu	37	20	50705115	50705115	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:50705115G>A	ENST00000361387.2	-	8	1104	c.1044C>T	c.(1042-1044)caC>caT	p.H348H	ZFP64_ENST00000371523.4_Silent_p.H129H|ZFP64_ENST00000371518.2_Silent_p.H348H	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCACCGCATGTGCATGGTCA	0.522000													83	121					0	0	0.003610	0	0
CLHC1	130162	broad.mit.edu	37	2	55407666	55407666	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:55407666T>A	ENST00000401408.1	-	11	1709	c.1364A>T	c.(1363-1365)cAg>cTg	p.Q455L	CLHC1_ENST00000406076.1_Missense_Mutation_p.Q333L|CLHC1_ENST00000406437.2_Missense_Mutation_p.Q6L|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000407122.1_Missense_Mutation_p.Q455L	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1																		GTCCTTCAACTGCTGTATGTA	0.393000													4	75					0	0	0.000602	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508758	37508758	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr10:37508758T>A	ENST00000374660.1	+	40	4406	c.4307T>A	c.(4306-4308)aTa>aAa	p.I1436K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.I1317K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I1317K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1373						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AATGAGGAGATATTTAATTAC	0.274000													4	2					0	0	0.000248	0	0
HIST2H2AB	317772	broad.mit.edu	37	1	149859412	149859412	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:149859412A>T	ENST00000331128.3	-	1	54	c.55T>A	c.(55-57)Tcg>Acg	p.S19T		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	19					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGCGGGACGAGCGCGACTTG	0.622000													5	90					0	0	0.001168	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46053298	46053298	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:46053298C>T	ENST00000536708.2	+	8	901	c.792C>T	c.(790-792)taC>taT	p.Y264Y	CDK5RAP3_ENST00000338399.4_Silent_p.Y239Y	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	239					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CAACGGTGTACGAGTGGAGGA	0.587000													5	56					0	0	0.004482	0	0
CHST12	55501	broad.mit.edu	37	7	2472365	2472365	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:2472365G>A	ENST00000258711.6	+	2	226	c.91G>A	c.(91-93)Gcc>Acc	p.A31T		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	31					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CAGCGCAGGCGCCGCGCACTT	0.687000													68	63					0	0	0.003610	0	0
XIST	7503	broad.mit.edu	37	X	73063633	73063633	+	RNA	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chrX:73063633G>T	ENST00000429829.1	-	0	8955					NR_001564.2																						CACAGATCAGGAGCAAATGTA	0.423000													14	16					0.000151284	0.000177723	0.001855	1	0
CACNG8	59283	broad.mit.edu	37	19	54466493	54466493	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:54466493G>A	ENST00000270458.2	+	1	200	c.97G>A	c.(97-99)Ggc>Agc	p.G33S		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	33					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGCCGCCTTCGGCCTCATGAC	0.667000													9	23					0	0	0.006214	0	0
CENPB	1059	broad.mit.edu	37	20	3766487	3766487	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:3766487T>C	ENST00000379751.4	-	1	850	c.644A>G	c.(643-645)gAc>gGc	p.D215G		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	215					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CGGCCGTCCGTCGCCTCCGCA	0.711000													14	144					0	0	0.004990	0	0
TRRAP	8295	broad.mit.edu	37	7	98548528	98548528	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:98548528C>G	ENST00000359863.4	+	38	5552	c.5343C>G	c.(5341-5343)ttC>ttG	p.F1781L	TRRAP_ENST00000355540.3_Missense_Mutation_p.F1763L|TRRAP_ENST00000446306.3_Missense_Mutation_p.F1762L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1781					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATCCTGCTTTCTTGTACAGCT	0.418000													7	207					0	0	0.001984	0	0
OR51B2	79345	broad.mit.edu	37	11	5344901	5344901	+	Silent	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:5344901A>G	ENST00000328813.2	-	1	681	c.627T>C	c.(625-627)tgT>tgC	p.C209C	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	209			C -> S (in dbSNP:rs7937237).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATGATCAGACAGTCTAGGA	0.403000													5	24					0	0	0.000602	0	0
HS2ST1	9653	broad.mit.edu	37	1	87558326	87558326	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:87558326C>T	ENST00000370550.5	+	4	925	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.R162W|HS2ST1_ENST00000356813.4_Missense_Mutation_p.R162W|HS2ST1_ENST00000370551.4_Missense_Mutation_p.R188W	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	188						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		ACCAGGGTTACGGAGACGAAA	0.303000													5	29					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179602873	179602873	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:179602873C>G	ENST00000589042.1	-	49	14531	c.14307G>C	c.(14305-14307)gaG>gaC	p.E4769D	TTN_ENST00000342175.6_Missense_Mutation_p.E4598D|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E3525D|TTN_ENST00000359218.5_Missense_Mutation_p.E4531D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4406D|TTN_ENST00000591111.1_Missense_Mutation_p.E4452D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4452	Ig-like 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCATGTATACTCGCCGCAGT	0.453000													11	65					0	0	0.000978	0	0
COL5A3	50509	broad.mit.edu	37	19	10108779	10108779	+	Splice_Site	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:10108779T>C	ENST00000264828.3	-	9	1242	c.1158_splice	c.e9+1	p.K386_splice		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	386	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACCCCTCACCTTTTCAATCAC	0.552000													4	290					0	0	0.000248	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423097	47423097	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:47423097G>C	ENST00000404338.3	+	1	1165	c.1165G>C	c.(1165-1167)Gat>Cat	p.D389H		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	389	FF 2.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GACCCCATGGGATGCCACCAG	0.448000													29	97					0	0	0.007291	0	0
NBPF20	100288142	broad.mit.edu	37	1	148342511	148342511	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:148342511T>G	ENST00000369202.1	-	5	722	c.525A>C	c.(523-525)caA>caC	p.Q175H	NBPF20_ENST00000414710.2_Missense_Mutation_p.Q175H					neuroblastoma breakpoint family, member 20											breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						CCTCCTCAACTTGAACATCTT	0.418000													56	499					0	0	0.003610	0	0
NFATC2	4773	broad.mit.edu	37	20	50140072	50140072	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:50140072C>T	ENST00000371564.3	-	2	927	c.708G>A	c.(706-708)tcG>tcA	p.S236S	NFATC2_ENST00000414705.1_Silent_p.S216S|NFATC2_ENST00000396009.3_Silent_p.S236S	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	236	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGGGCACGGGCGAGTGGCGGC	0.667000													22	200					0	0	0.006320	0	0
LOC644669	644669	broad.mit.edu	37	18	15323276	15323276	+	RNA	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr18:15323276A>T	ENST00000455308.2	-	0	572					NR_027417.1																						ATCAACTGCAATTGCATTTGC	0.308000													3	13					0	0	0.000248	0	0
LRRC66	339977	broad.mit.edu	37	4	52861436	52861436	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:52861436T>C	ENST00000343457.3	-	4	1758	c.1752A>G	c.(1750-1752)atA>atG	p.I584M		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	584						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GGGAAGCTGTTATTTCTCCGG	0.498000													7	247					0	0	0.003080	0	0
SERPINA5	5104	broad.mit.edu	37	14	95058474	95058474	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:95058474G>T	ENST00000329597.7	+	6	1329	c.1119G>T	c.(1117-1119)agG>agT	p.R373S	SERPINA5_ENST00000554866.1_Missense_Mutation_p.R373S|SERPINA5_ENST00000554276.1_Missense_Mutation_p.R373S|SERPINA5_ENST00000553780.1_Missense_Mutation_p.R373S|SERPINA3_ENST00000553947.1_Splice_Site	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	373		Reactive bond.			fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TCACTTTCAGGTCGGCCCGCC	0.562000													9	442					0.000274275	0.000319109	0.004482	1	0
CENPB	1059	broad.mit.edu	37	20	3766501	3766501	+	Silent	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:3766501C>A	ENST00000379751.4	-	1	836	c.630G>T	c.(628-630)ggG>ggT	p.G210G		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	210					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CTCCGCACAGCCCCGCGGCCT	0.711000													19	143					2.4624e-09	3.13632e-09	0.008871	1	0
CRYZL1	9946	broad.mit.edu	37	21	34997056	34997056	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr21:34997056G>T	ENST00000361534.2	-	4	288	c.149C>A	c.(148-150)cCt>cAt	p.P50H	AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000381554.3_Missense_Mutation_p.P26H|CRYZL1_ENST00000445393.1_Missense_Mutation_p.P26H|CRYZL1_ENST00000413017.2_Missense_Mutation_p.P26H|CRYZL1_ENST00000381540.3_Missense_Mutation_p.P26H|CRYZL1_ENST00000290244.5_Missense_Mutation_p.P26H			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	26					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						CTCTGTAACAGGAAGATCTTC	0.299000													14	57					1.3612e-06	1.68067e-06	0.003163	1	0
TBX19	9095	broad.mit.edu	37	1	168274253	168274253	+	Silent	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:168274253C>A	ENST00000367821.3	+	6	786	c.735C>A	c.(733-735)ggC>ggA	p.G245G		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	245					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TAGTGGGAGGCTGGATCTTTT	0.493000													16	73					2.94398e-08	3.73007e-08	0.007413	1	0
ROR1	4919	broad.mit.edu	37	1	64643163	64643163	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:64643163G>A	ENST00000371079.1	+	9	1814	c.1439G>A	c.(1438-1440)gGt>gAt	p.G480D	ROR1_ENST00000545203.1_5'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	480	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GAAGAATTGGGTGAGTGTGCC	0.423000													21	270					0	0	0.001523	0	0
CD9	928	broad.mit.edu	37	12	6342628	6342628	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:6342628C>G	ENST00000382518.1	+	5	760	c.324C>G	c.(322-324)atC>atG	p.I108M	CD9_ENST00000009180.4_Missense_Mutation_p.I108M|CD9_ENST00000382515.2_Missense_Mutation_p.I39M|CD9_ENST00000481267.1_3'UTR			P21926	CD9_HUMAN	CD9 molecule	108					cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						CTGCGGCCATCTGGGGATATT	0.557000													29	38					0	0	0.005443	0	0
TNRC6A	27327	broad.mit.edu	37	16	24802394	24802394	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:24802394A>G	ENST00000395799.3	+	6	2560	c.2431A>G	c.(2431-2433)Aca>Gca	p.T811A	TNRC6A_ENST00000315183.7_Missense_Mutation_p.T811A	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	811	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTCTGCTGCTACAGGAATGGT	0.517000													9	29					0	0	0.004482	0	0
MAP1A	4130	broad.mit.edu	37	15	43819557	43819557	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:43819557G>C	ENST00000382031.1	+	5	6631	c.6600G>C	c.(6598-6600)gaG>gaC	p.E2200D	MAP1A_ENST00000399453.1_Missense_Mutation_p.E1962D|MAP1A_ENST00000300231.5_Missense_Mutation_p.E1962D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1962						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ATCCTGATGAGAGAAGCTTTC	0.562000													24	62					0	0	0.002780	0	0
PZP	5858	broad.mit.edu	37	12	9313713	9313713	+	Splice_Site	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:9313713C>T	ENST00000261336.2	-	23	2817		c.e23-1		PZP_ENST00000381997.2_Splice_Site|PZP_ENST00000539983.1_Splice_Site	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACATTAGCACCTTTAGAAACA	0.423000													7	57					0	0	0.003080	0	0
RBM26	64062	broad.mit.edu	37	13	79896555	79896555	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr13:79896555G>C	ENST00000438737.2	-	21	3303	c.2863C>G	c.(2863-2865)Ctg>Gtg	p.L955V	RBM26_ENST00000267229.7_Missense_Mutation_p.L928V|RBM26_ENST00000438724.1_Missense_Mutation_p.L931V			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	955	RRM 2.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTCCATGCCAGTTTTAGATCT	0.299000													21	17					0	0	0.005443	0	0
PTER	9317	broad.mit.edu	37	10	16526619	16526619	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr10:16526619C>G	ENST00000378000.1	+	3	482	c.236C>G	c.(235-237)gCc>gGc	p.A79G	PTER_ENST00000298942.3_Missense_Mutation_p.A79G|PTER_ENST00000423462.2_Missense_Mutation_p.A79G|PTER_ENST00000535784.2_Missense_Mutation_p.A79G	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	79					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						GAGACAGAAGCCATAAAGGAA	0.393000													4	74					0	0	0.000248	0	0
FAM162B	221303	broad.mit.edu	37	6	117086362	117086362	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:117086362G>A	ENST00000368557.4	-	2	375	c.229C>T	c.(229-231)Ctg>Ttg	p.L77L		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	77						integral to membrane				large_intestine(2)|lung(4)	6						GTCCACAGCAGGATTTTCTTG	0.632000													14	48					0	0	0.004007	0	0
ZNF446	55663	broad.mit.edu	37	19	58991738	58991738	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:58991738C>T	ENST00000596341.1	+	7	3065	c.845C>T	c.(844-846)aCg>aTg	p.T282M	ZNF446_ENST00000335841.4_Missense_Mutation_p.R305C|ZNF446_ENST00000594369.1_Missense_Mutation_p.T333M			Q9NWS9	ZN446_HUMAN	zinc finger protein 446	333	Pro-rich.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AAGCCCTACACGTGCGAGCAG	0.682000													7	22					0	0	0.001984	0	0
FCER2	2208	broad.mit.edu	37	19	7754314	7754314	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:7754314T>G	ENST00000346664.5	-	11	943	c.731A>C	c.(730-732)aAc>aCc	p.N244T	FCER2_ENST00000360067.4_Missense_Mutation_p.N243T|FCER2_ENST00000597921.1_Missense_Mutation_p.N244T	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	244	C-type lectin.				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						TGGAGCCCAGTTGCTGGAGCA	0.667000													2	7					0	0	0.004672	0	0
SGK2	10110	broad.mit.edu	37	20	42195754	42195754	+	Missense_Mutation	SNP	C	C	T	rs141029147		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:42195754C>T	ENST00000373100.1	+	4	543	c.83C>T	c.(82-84)cCa>cTa	p.P28L	SGK2_ENST00000423407.3_Missense_Mutation_p.P28L|SGK2_ENST00000373077.1_Missense_Mutation_p.P28L|SGK2_ENST00000426287.1_Missense_Mutation_p.P54L|SGK2_ENST00000341458.4_Missense_Mutation_p.P88L|SGK2_ENST00000373092.3_Missense_Mutation_p.P28L			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	88					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCAGCCAACCCAAAGTGAGTT	0.512000													4	76					0	0	0.001168	0	0
SRD5A2	6716	broad.mit.edu	37	2	31805847	31805847	+	RNA	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:31805847G>A	ENST00000405650.1	-	0	289							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GTAGCCGCCGGCTTCAGGCTC	0.721000													8	27					0	0	0.004482	0	0
BTNL9	153579	broad.mit.edu	37	5	180483002	180483002	+	Silent	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:180483002T>G	ENST00000327705.9	+	9	1173	c.942T>G	c.(940-942)gcT>gcG	p.A314A	BTNL9_ENST00000376842.3_Silent_p.A315A|BTNL9_ENST00000376841.2_Silent_p.A314A	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	314	B30.2/SPRY.					integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGACGGGCTGAAGGCCAGG	0.522000													4	172					0	0	0.000602	0	0
WFDC3	140686	broad.mit.edu	37	20	44416545	44416545	+	Silent	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:44416545T>C	ENST00000243938.4	-	4	371	c.288A>G	c.(286-288)ccA>ccG	p.P96P	WFDC3_ENST00000372632.2_Intron|WFDC3_ENST00000481847.1_5'UTR|WFDC3_ENST00000372630.2_Intron	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	96	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				TCTTTACACCTGGACATGTCT	0.473000													14	133					0	0	0.004007	0	0
SPATC1	375686	broad.mit.edu	37	8	145101649	145101649	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:145101649C>A	ENST00000377470.3	+	5	1670	c.1568C>A	c.(1567-1569)gCg>gAg	p.A523E	SPATC1_ENST00000447830.2_3'UTR	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	523										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGCACCCTGCGCTGACCGAG	0.642000													18	49					3.52763e-06	4.28988e-06	0.004990	1	0
HOXD12	3238	broad.mit.edu	37	2	176964535	176964535	+	Silent	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:176964535T>C	ENST00000406506.2	+	1	78	c.6T>C	c.(4-6)tgT>tgC	p.C2C	HOXD12_ENST00000404162.2_Silent_p.C2C			P35452	HXD12_HUMAN	homeobox D12	2						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TGGAGATGTGTGAGCGCAGTC	0.542000													76	85					0	0	0.003610	0	0
APAF1	317	broad.mit.edu	37	12	99042256	99042256	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:99042256A>T	ENST00000357310.1	+	2	696	c.119A>T	c.(118-120)gAg>gTg	p.E40V	APAF1_ENST00000547045.1_Missense_Mutation_p.E40V|APAF1_ENST00000550527.1_Missense_Mutation_p.E40V|APAF1_ENST00000552268.1_Missense_Mutation_p.E40V|APAF1_ENST00000551964.1_Missense_Mutation_p.E40V|APAF1_ENST00000339433.3_Missense_Mutation_p.E40V|APAF1_ENST00000549007.1_Missense_Mutation_p.E40V|APAF1_ENST00000333991.1_Missense_Mutation_p.E40V|APAF1_ENST00000547743.1_Missense_Mutation_p.E40V|APAF1_ENST00000359972.2_Missense_Mutation_p.E40V	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	40	CARD.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	ATATCAGAAGAGGAAAAAGTA	0.348000													4	112					0	0	0.000248	0	0
RANBP2	5903	broad.mit.edu	37	2	109383950	109383950	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:109383950C>G	ENST00000283195.6	+	20	7081	c.6955C>G	c.(6955-6957)Cta>Gta	p.L2319V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2319	RanBD1 3.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTACCTGATCTAGTTGAAGT	0.393000													102	164					0	0	0.003610	0	0
MIA3	375056	broad.mit.edu	37	1	222802470	222802470	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:222802470T>A	ENST00000344922.5	+	4	1933	c.1908T>A	c.(1906-1908)gaT>gaA	p.D636E	MIA3_ENST00000344441.6_Missense_Mutation_p.D636E|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	636					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CCTCTCCAGATGAGATTGATT	0.468000													35	158					0	0	0.004289	0	0
LPAR1	1902	broad.mit.edu	37	9	113704008	113704008	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:113704008C>T	ENST00000374431.3	-	4	869	c.486G>A	c.(484-486)cgG>cgA	p.R162R	LPAR1_ENST00000358883.4_Silent_p.R162R|LPAR1_ENST00000538760.1_Silent_p.R163R|LPAR1_ENST00000541779.1_Silent_p.R163R|LPAR1_ENST00000374430.2_Silent_p.R162R	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	162					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CCACTACCCGCCGGTTGCTCA	0.512000													22	74					0	0	0.002299	0	0
ZNF318	24149	broad.mit.edu	37	6	43305026	43305026	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:43305026T>G	ENST00000361428.2	-	10	6787	c.6710A>C	c.(6709-6711)aAa>aCa	p.K2237T	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2237					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CACTGGAGCTTTAACCAAATT	0.493000													5	119					0	0	0.000602	0	0
CCL23	6368	broad.mit.edu	37	17	34341417	34341417	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:34341417G>T	ENST00000293280.2	-	2	163	c.93C>A	c.(91-93)ttC>ttA	p.F31L	CCL23_ENST00000591423.1_Missense_Mutation_p.F31L	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	31				MLVTALGSQARVTKDAETEFMMSKLPLENPVLL -> HAFL LPLVPGPGHKRCRDRVHECQSFHWKIQYFW (in Ref. 1).	cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	TTGACATCATGAACTCTGTCT	0.483000													9	30					3.09899e-07	3.88577e-07	0.004482	1	0
METAP2	10988	broad.mit.edu	37	12	95887871	95887871	+	Silent	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:95887871A>G	ENST00000323666.5	+	5	697	c.468A>G	c.(466-468)aaA>aaG	p.K156K	METAP2_ENST00000261220.9_Silent_p.K133K|METAP2_ENST00000546753.1_Silent_p.K133K|METAP2_ENST00000551840.1_Silent_p.K155K|METAP2_ENST00000550777.1_Silent_p.K120K	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	156					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	AAGAAAAGAAAGCATTAGATC	0.403000													3	54					0	0	0.004672	0	0
ACSL4	2182	broad.mit.edu	37	X	108902623	108902623	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chrX:108902623T>A	ENST00000340800.2	-	16	2442	c.1938A>T	c.(1936-1938)gaA>gaT	p.E646D	ACSL4_ENST00000348502.6_Missense_Mutation_p.E605D|ACSL4_ENST00000469796.2_Missense_Mutation_p.E646D	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	646					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GTATTTCAGCTTCCATAGCAG	0.393000													31	26					0	0	0.001786	0	0
SPINK5	11005	broad.mit.edu	37	5	147513386	147513386	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:147513386G>A	ENST00000359874.3	+	33	3285	c.3212G>A	c.(3211-3213)cGc>cAc	p.R1071H	SPINK5_ENST00000256084.7_Missense_Mutation_p.R1041H	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	1041					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACACATCCGCAGTACAGGG	0.468000													14	44					0	0	0.004990	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64604277	64604277	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:64604277G>C	ENST00000342711.5	-	11	1317	c.1318C>G	c.(1318-1320)Ccc>Gcc	p.P440A		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	440					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TGGTCTGTGGGGGCGTGCAGG	0.701000													7	9					0	0	0.003080	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148944475	148944475	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:148944475C>G	ENST00000336498.3	+	19	2017	c.1778C>G	c.(1777-1779)cCa>cGa	p.P593R	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.P242R	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	593					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GCATCACCCCCAAATGCGCCA	0.512000													9	57					0	0	0.004482	0	0
TIPIN	54962	broad.mit.edu	37	15	66645273	66645273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:66645273G>A	ENST00000261881.4	-	2	98	c.13C>T	c.(13-15)Cag>Tag	p.Q5*	TIPIN_ENST00000367709.4_5'UTR	NM_017858.2	NP_060328.2	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	5					cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						CCATTCTCCTGTGGTTCTAGC	0.413000													11	46					0	0	0.001368	0	0
CCR2	729230	broad.mit.edu	37	3	46399419	46399419	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:46399419T>A	ENST00000292301.4	+	2	886	c.401T>A	c.(400-402)cTg>cAg	p.L134Q	CCR2_ENST00000445132.2_Missense_Mutation_p.L134Q|CCR2_ENST00000400888.2_Missense_Mutation_p.L134Q|CCR2_ENST00000465202.1_Intron	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	134					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		ATCATCCTCCTGACAATCGAT	0.463000													22	419					0	0	0.003330	0	0
OR2G3	81469	broad.mit.edu	37	1	247769355	247769355	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:247769355C>T	ENST00000320002.2	+	1	500	c.468C>T	c.(466-468)tcC>tcT	p.S156S	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGCTAGTTCCCTAATCCATG	0.483000													4	139					0	0	0.000602	0	0
CACNA1H	8912	broad.mit.edu	37	16	1262016	1262016	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:1262016T>C	ENST00000348261.5	+	25	4885	c.4637T>C	c.(4636-4638)gTg>gCg	p.V1546A	CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1546A|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1546A	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1546					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AGCTTCTTCGTGCTCAACATG	0.642000													98	175					0	0	0.003610	0	0
CHD7	55636	broad.mit.edu	37	8	61777711	61777711	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:61777711C>T	ENST00000423902.2	+	38	8692	c.8213C>T	c.(8212-8214)aCg>aTg	p.T2738M	CHD7_ENST00000524602.1_Missense_Mutation_p.T689M	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2738					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTGGCCTCCACGTCAGGGATC	0.612000													9	17					0	0	0.006214	0	0
BAHD1	22893	broad.mit.edu	37	15	40756083	40756083	+	Silent	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:40756083A>G	ENST00000561234.1	+	4	2095	c.1836A>G	c.(1834-1836)cgA>cgG	p.R612R	BAHD1_ENST00000416165.1_Silent_p.R613R|BAHD1_ENST00000560846.1_Silent_p.R613R			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	613					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CAGCCATCCGAAAGAGCTACC	0.552000													7	14					0	0	0.001984	0	0
SEMA3A	10371	broad.mit.edu	37	7	83592582	83592582	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:83592582T>A	ENST00000265362.3	-	16	2113	c.1799A>T	c.(1798-1800)aAg>aTg	p.K600M	SEMA3A_ENST00000436949.1_Missense_Mutation_p.K600M	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	600	Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TCTCTGCGACTTCGGACTGCA	0.438000													34	85					0	0	0.002445	0	0
NCAPD3	23310	broad.mit.edu	37	11	134027943	134027943	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:134027943T>C	ENST00000534548.2	-	31	4118	c.4054A>G	c.(4054-4056)Att>Gtt	p.I1352V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1352					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGGATTGCAATGGTGCTCAGG	0.552000													38	137					0	0	0.004289	0	0
TXLNGY	246126	broad.mit.edu	37	Y	21761715	21761715	+	RNA	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chrY:21761715A>G	ENST00000253320.4	+	0	4723							Q9BZA5	CY15A_HUMAN												haematopoietic_and_lymphoid_tissue(1)	1						GGAAACGGAAAAGGTATTTAC	0.338000													2	12					0	0	0.004672	0	0
CCDC88A	55704	broad.mit.edu	37	2	55539617	55539617	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:55539617C>G	ENST00000436346.1	-	23	4873	c.4032G>C	c.(4030-4032)caG>caC	p.Q1344H	CCDC88A_ENST00000413716.2_Missense_Mutation_p.Q1343H|AC012358.8_ENST00000366287.4_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.Q1343H|CCDC88A_ENST00000263630.8_Missense_Mutation_p.Q1344H	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1344					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTCCATATTCTGCTCCAAAA	0.328000													13	54					0	0	0.002450	0	0
PTPRT	11122	broad.mit.edu	37	20	40710644	40710644	+	Missense_Mutation	SNP	G	G	T	rs144244064		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:40710644G>T	ENST00000373198.3	-	31	4451	c.4216C>A	c.(4216-4218)Cgt>Agt	p.R1406S	PTPRT_ENST00000373187.1_Missense_Mutation_p.R1384S|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1387S|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1393S|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1394S|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1383S|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1374S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1384	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R1406C(2)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTTCCACTACGGCCTCCCCCA	0.483000													5	171					5.9392e-07	7.3707e-07	0.001168	1	0
C12orf52	84934	broad.mit.edu	37	12	113629453	113629453	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:113629453C>G	ENST00000548278.1	+	4	1333	c.641C>G	c.(640-642)gCc>gGc	p.A214G	RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Missense_Mutation_p.A214G|C12orf52_ENST00000552495.1_Missense_Mutation_p.A238G	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	214	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GGTCATCCAGCCACCAGTGCC	0.602000													3	62					0	0	0.000248	0	0
TRH	7200	broad.mit.edu	37	3	129695649	129695649	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:129695649G>T	ENST00000302649.3	+	3	846	c.319G>T	c.(319-321)Gct>Tct	p.A107S	TRH_ENST00000507066.1_Missense_Mutation_p.A103S	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	107					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						agaagggggggCTGTGGGACC	0.577000													5	80					0.000602214	0.000690691	0.000602	1	0
ARNT2	9915	broad.mit.edu	37	15	80762647	80762647	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:80762647G>T	ENST00000533983.1	+	5	589	c.250G>T	c.(250-252)Gca>Tca	p.A84S	ARNT2_ENST00000527771.1_Missense_Mutation_p.A84S|ARNT2_ENST00000303329.4_Missense_Mutation_p.A95S|ARNT2_ENST00000531595.3_3'UTR			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	95	Helix-loop-helix motif.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CACATGCAGCGCACTGGCTCG	0.552000													13	31					1.36491e-13	1.78545e-13	0.001855	1	0
GPR98	84059	broad.mit.edu	37	5	90040951	90040951	+	Silent	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:90040951T>A	ENST00000405460.2	+	51	10734	c.10638T>A	c.(10636-10638)ccT>ccA	p.P3546P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3546					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGAAGTACCTTCTGCTTATG	0.408000													9	287					0	0	0.008291	0	0
ZBTB11	27107	broad.mit.edu	37	3	101375081	101375081	+	Missense_Mutation	SNP	C	C	G	rs144559723		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:101375081C>G	ENST00000312938.4	-	7	2638	c.2058G>C	c.(2056-2058)aaG>aaC	p.K686N		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	686					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGATAAAAGTCTTTCCACAGA	0.333000													7	32					0	0	0.003080	0	0
VPS13B	157680	broad.mit.edu	37	8	100513997	100513997	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:100513997C>G	ENST00000395996.1	+	26	4064	c.3953C>G	c.(3952-3954)aCc>aGc	p.T1318S	VPS13B_ENST00000357162.2_Missense_Mutation_p.T1318S|VPS13B_ENST00000358544.2_Missense_Mutation_p.T1318S			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1318					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTGGAGGAACCAGTGGACGT	0.423000													10	125					0	0	0.006214	0	0
ROBO4	54538	broad.mit.edu	37	11	124763789	124763789	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:124763789G>A	ENST00000306534.3	-	9	1956	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C	ROBO4_ENST00000533054.1_Missense_Mutation_p.R346C	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	491					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.R491C(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CGGCGCCGGCGGTGGATACAC	0.647000													4	17					0	0	0.000248	0	0
KIAA1551	55196	broad.mit.edu	37	12	32133942	32133942	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:32133942A>T	ENST00000312561.4	+	4	467	c.53A>T	c.(52-54)aAa>aTa	p.K18I	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		CTGTATCCTAAAAGCCAGCCA	0.383000													19	30					0	0	0.002780	0	0
FNDC1	84624	broad.mit.edu	37	6	159687230	159687230	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:159687230T>C	ENST00000297267.9	+	21	5599	c.5399T>C	c.(5398-5400)cTt>cCt	p.L1800P	FNDC1_ENST00000340366.6_Missense_Mutation_p.L1737P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1800						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGAGTTGTTCTTTGTAATTCA	0.443000													26	72					0	0	0.003954	0	0
KCNT2	343450	broad.mit.edu	37	1	196227581	196227581	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:196227581T>A	ENST00000367433.5	-	25	2983	c.2882A>T	c.(2881-2883)gAc>gTc	p.D961V	KCNT2_ENST00000294725.8_Missense_Mutation_p.D985V|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.D919V			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	985						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTCTTTGGAGTCTTTGGTGTC	0.433000													10	78					0	0	0.000978	0	0
CLEC4G	339390	broad.mit.edu	37	19	7794310	7794310	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:7794310T>C	ENST00000328853.5	-	9	892	c.824A>G	c.(823-825)gAc>gGc	p.D275G		NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	275	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						ACACGGTGCGTCGTTCCACAG	0.632000													3	47					0	0	0.004672	0	0
SMARCA1	6594	broad.mit.edu	37	X	128640093	128640093	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chrX:128640093G>A	ENST00000371122.4	-	8	1191	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	SMARCA1_ENST00000371123.1_Silent_p.L354L|SMARCA1_ENST00000371121.3_Silent_p.L354L	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	354	Helicase ATP-binding.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ATAAAAAGTTGAGTAAGGCCC	0.373000													35	33					0	0	0.004289	0	0
ARNT2	9915	broad.mit.edu	37	15	80872870	80872870	+	Missense_Mutation	SNP	C	C	T	rs144530385		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:80872870C>T	ENST00000533983.1	+	17	2038	c.1699C>T	c.(1699-1701)Cgt>Tgt	p.R567C	RP11-379K22.3_ENST00000603875.1_RNA|ARNT2_ENST00000527771.1_Missense_Mutation_p.R567C|ARNT2_ENST00000303329.4_Missense_Mutation_p.R578C			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	578					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GACAGGGAGTCGTCCGCCCTT	0.567000													15	39					0	0	0.002450	0	0
YWHAE	7531	broad.mit.edu	37	17	1268247	1268247	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:1268247C>A	ENST00000264335.8	-	2	437	c.170G>T	c.(169-171)aGa>aTa	p.R57I	YWHAE_ENST00000571732.1_Missense_Mutation_p.R35I|YWHAE_ENST00000575977.1_Missense_Mutation_p.R57I|YWHAE_ENST00000573026.1_Intron	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide	57		Interaction with phosphoserine on interacting protein.			apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CCAGGAGGCTCTTCTAGCTCC	0.423000			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						5	142					3.59834e-05	4.28964e-05	0.001168	1	0
TAP1	6890	broad.mit.edu	37	6	32819997	32819997	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:32819997C>T	ENST00000354258.4	-	3	1074	c.913G>A	c.(913-915)Ggt>Agt	p.G305S	TAP1_ENST00000425148.2_Missense_Mutation_p.G44S|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	305	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						ATCCCGTCACCCACGAACTCC	0.537000													9	123					0	0	0.000978	0	0
ZPLD1	131368	broad.mit.edu	37	3	102157324	102157324	+	Splice_Site	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:102157324G>T	ENST00000306176.1	+	2	141	c.40_splice	c.e2-1	p.G14_splice	ZPLD1_ENST00000491959.1_5'UTR|ZPLD1_ENST00000466937.1_5'UTR	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	0						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TCTTTTCCAGGTTTTGCAATG	0.458000													16	62					1.5739e-10	2.03681e-10	0.004007	1	0
EPHA5	2044	broad.mit.edu	37	4	66217243	66217243	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:66217243A>G	ENST00000273854.3	-	14	2972	c.2372T>C	c.(2371-2373)cTt>cCt	p.L791P	EPHA5_ENST00000354839.4_Missense_Mutation_p.L769P|EPHA5_ENST00000432638.2_Missense_Mutation_p.L628P|EPHA5_ENST00000511294.1_Missense_Mutation_p.L792P	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	791	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CATGTCAGAAAGGTACTTCAT	0.423000										TSP Lung(17;0.13)			8	29					0	0	0.004482	0	0
C12orf4	57102	broad.mit.edu	37	12	4599038	4599038	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:4599038G>C	ENST00000261250.3	-	14	1681	c.1594C>G	c.(1594-1596)Ctt>Gtt	p.L532V	C12orf4_ENST00000545746.1_Missense_Mutation_p.L532V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	532										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATGTTACTAAGTTGATAAAAC	0.313000													30	35					0	0	0.002445	0	0
OR10A2	341276	broad.mit.edu	37	11	6891056	6891056	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:6891056T>G	ENST00000307322.4	+	1	133	c.71T>G	c.(70-72)gTc>gGc	p.V24G		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATCTACCTGGTCACCCTGATG	0.448000													5	251					0	0	0.001168	0	0
MICU3	286097	broad.mit.edu	37	8	16948072	16948072	+	Silent	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr8:16948072A>T	ENST00000318063.5	+	8	909	c.867A>T	c.(865-867)ggA>ggT	p.G289G		NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3																		AACTTTATGGATACCATTCTC	0.323000													6	241					0	0	0.001984	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627258	43627258	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr9:43627258G>T	ENST00000332857.6	-	4	1457	c.1429C>A	c.(1429-1431)Ccc>Acc	p.P477T		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GAAATAAAGGGTTGGCGGTGG	0.522000													9	534					0.00448238	0.00505057	0.004482	1	0
SYNJ1	8867	broad.mit.edu	37	21	34072212	34072212	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr21:34072212A>T	ENST00000382499.2	-	4	531	c.532T>A	c.(532-534)Tta>Ata	p.L178I	SYNJ1_ENST00000433931.2_Missense_Mutation_p.L178I|SYNJ1_ENST00000382491.3_Missense_Mutation_p.L139I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.L139I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.L139I	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	139	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTCAAATCTAAACTGATGCCA	0.388000													6	24					0	0	0.001168	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													3	90					0	0	0.001168	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778509	31778509	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr6:31778509G>T	ENST00000375654.4	-	2	1430	c.1241C>A	c.(1240-1242)gCc>gAc	p.A414D	HSPA1L_ENST00000417199.3_Missense_Mutation_p.A414D	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	414					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTTTATCAGGGCAGTCATCAC	0.597000													21	226					2.37509e-13	3.11487e-13	0.001523	1	0
NPIPB5	100132247	broad.mit.edu	37	16	22545874	22545874	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr16:22545874C>T	ENST00000424340.1	+	7	1849	c.1570C>T	c.(1570-1572)Ccc>Tcc	p.P524S	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.P524S	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		TGCCCTTCCACCCTCAGCAGA	0.577000													22	545					0	0	0.001882	0	0
HRH2	3274	broad.mit.edu	37	5	175110708	175110708	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr5:175110708T>A	ENST00000231683.2	+	1	2245	c.472T>A	c.(472-474)Tgg>Agg	p.W158R	HRH2_ENST00000377291.2_Missense_Mutation_p.W158R	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	158					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CCACCTGGGGTGGAACAGCAG	0.547000													15	43					0	0	0.002450	0	0
SPINK5	11005	broad.mit.edu	37	5	147513386	147513386	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr5:147513386G>A	ENST00000359874.3	+	33	3285	c.3212G>A	c.(3211-3213)cGc>cAc	p.R1071H	SPINK5_ENST00000256084.7_Missense_Mutation_p.R1041H	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	1041					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACACATCCGCAGTACAGGG	0.468000													14	44					0	0	0.004990	0	0
SLC17A1	6568	broad.mit.edu	37	6	25826725	25826725	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr6:25826725G>A	ENST00000244527.4	-	3	286	c.171C>T	c.(169-171)ccC>ccT	p.P57P	SLC17A1_ENST00000427328.1_Silent_p.P57P|SLC17A1_ENST00000468082.1_Silent_p.P57P|SLC17A1_ENST00000476801.1_Silent_p.P57P	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	57					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TGGAGGTGTTGGGCAAACCAT	0.408000													56	176					0	0	0.003610	0	0
LRRC32	2615	broad.mit.edu	37	11	76371159	76371159	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr11:76371159A>T	ENST00000407242.2	-	3	1720	c.1478T>A	c.(1477-1479)tTg>tAg	p.L493*	LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Nonsense_Mutation_p.L493*|LRRC32_ENST00000404995.1_Nonsense_Mutation_p.L493*	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	493						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGGACCTCCAAGGAGGCCTC	0.652000													7	31					0	0	0.001984	0	0
NOD2	64127	broad.mit.edu	37	16	50733835	50733835	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr16:50733835C>T	ENST00000300589.2	+	2	615	c.510C>T	c.(508-510)atC>atT	p.I170I	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	170	CARD 2.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GTGATGAAATCAGGTTGCCGA	0.552000													19	41					0	0	0.008871	0	0
EVC2	132884	broad.mit.edu	37	4	5627547	5627547	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr4:5627547C>T	ENST00000310917.2	-	13	2466	c.1735G>A	c.(1735-1737)Gac>Aac	p.D579N	EVC2_ENST00000344408.5_Missense_Mutation_p.D659N|EVC2_ENST00000344938.1_Missense_Mutation_p.D659N	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	659						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGCTTTAAGTCATTGTCCAAC	0.388000													19	124					0	0	0.008871	0	0
TPRG1L	127262	broad.mit.edu	37	1	3544105	3544105	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:3544105G>T	ENST00000378344.2	+	4	583	c.512G>T	c.(511-513)aGt>aTt	p.S171I	TPRG1L_ENST00000344579.5_Missense_Mutation_p.S112I	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	171						cell junction|synaptic vesicle				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		GACAAGCAAAGTCGTCCTTCC	0.502000													11	221					1.33987e-11	1.74766e-11	0.008291	1	0
SNTA1	6640	broad.mit.edu	37	20	32026759	32026759	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr20:32026759G>A	ENST00000217381.2	-	2	655	c.384C>T	c.(382-384)gcC>gcT	p.A128A		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	128	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CCACAAAAAGGGCCTCTGTCT	0.542000													5	305					0	0	0.000602	0	0
HPDL	84842	broad.mit.edu	37	1	45792887	45792887	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:45792887C>T	ENST00000334815.3	+	1	343	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	23					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					GCCCCTAGCCCGGAACCTGCA	0.697000													14	19					0	0	0.004007	0	0
GRIA4	2893	broad.mit.edu	37	11	105623796	105623796	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr11:105623796T>A	ENST00000393127.2	+	4	783	c.337T>A	c.(337-339)Tta>Ata	p.L113I	GRIA4_ENST00000393125.2_Missense_Mutation_p.L113I|GRIA4_ENST00000282499.5_Missense_Mutation_p.L113I|GRIA4_ENST00000428631.2_Missense_Mutation_p.L113I|GRIA4_ENST00000530497.1_Missense_Mutation_p.L113I|GRIA4_ENST00000525187.1_Missense_Mutation_p.L113I	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	113					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CTGCAGCGCCTTACATATCTC	0.463000													18	72					0	0	0.004990	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213277842	213277842	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:213277842A>T	ENST00000366960.3	+	4	459	c.309A>T	c.(307-309)gaA>gaT	p.E103D	RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.E91D	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	103	PX.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AATGTGCTGAAGACCTGCTAC	0.353000													4	59					0	0	0.000602	0	0
CELF2	10659	broad.mit.edu	37	10	11047387	11047387	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr10:11047387G>A	ENST00000379261.4	+	1	129	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	CELF2_ENST00000416382.2_Missense_Mutation_p.E13K	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	13	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TATGAGAAATGAAGAGCTGCT	0.398000													41	147					0	0	0.002522	0	0
RPAP1	26015	broad.mit.edu	37	15	41814044	41814044	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr15:41814044G>C	ENST00000304330.4	-	21	3046	c.2930C>G	c.(2929-2931)gCc>gGc	p.A977G	RPAP1_ENST00000561603.1_Missense_Mutation_p.A977G	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	977	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ATGATAGAGGGCAGCATGGGT	0.602000													3	26					0	0	0.004672	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500299	48500299	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr15:48500299G>A	ENST00000396577.3	+	2	598	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	SLC12A1_ENST00000558405.1_Missense_Mutation_p.R128Q|SLC12A1_ENST00000380993.3_Missense_Mutation_p.R128Q|SLC12A1_ENST00000330289.6_Missense_Mutation_p.R128Q|SLC12A1_ENST00000561031.1_Missense_Mutation_p.R128Q	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	128					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AAGGTCAACCGACCCAGCCTG	0.473000													13	48					0	0	0.001855	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926242	67926242	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr11:67926242C>A	ENST00000304363.4	-	11	1924	c.1571G>T	c.(1570-1572)gGt>gTt	p.G524V		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CGAATGAGCACCTCTCACAGG	0.552000													4	129					1.23904e-05	1.50187e-05	0.000602	1	0
COG4	25839	broad.mit.edu	37	16	70548314	70548314	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr16:70548314C>A	ENST00000323786.5	-	4	489	c.468G>T	c.(466-468)gaG>gaT	p.E156D	COG4_ENST00000564653.1_Missense_Mutation_p.E156D|COG4_ENST00000393612.4_Missense_Mutation_p.E152D	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	152					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CTGCAGCCTGCTCATAATCTT	0.507000													11	50					3.07112e-06	3.76055e-06	0.000978	1	0
RTN4R	65078	broad.mit.edu	37	22	20229737	20229737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr22:20229737G>A	ENST00000043402.7	-	2	1357	c.919C>T	c.(919-921)Cag>Tag	p.Q307*		NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	307	LRRCT.				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GCGCAGCCCTGCAGGTCATTG	0.682000													7	12					0	0	0.001984	0	0
OR8K5	219453	broad.mit.edu	37	11	55927529	55927529	+	Nonsense_Mutation	SNP	G	G	A	rs147577134		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr11:55927529G>A	ENST00000313447.1	-	1	264	c.265C>T	c.(265-267)Cga>Tga	p.R89*		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R89R(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATAGTATTTCGATCCACAACA	0.393000													13	65					0	0	0.001855	0	0
USP40	55230	broad.mit.edu	37	2	234465540	234465540	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr2:234465540C>G	ENST00000251722.6	-	5	624	c.507G>C	c.(505-507)caG>caC	p.Q169H	USP40_ENST00000427112.2_Missense_Mutation_p.Q169H|USP40_ENST00000450966.1_Missense_Mutation_p.Q181H			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	169					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TACAAACAATCTGGTTAACAA	0.368000													10	39					0	0	0.006214	0	0
GRHL3	57822	broad.mit.edu	37	1	24669194	24669194	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:24669194G>A	ENST00000361548.4	+	10	1447	c.1217G>A	c.(1216-1218)aGg>aAg	p.R406K	GRHL3_ENST00000350501.5_Missense_Mutation_p.R406K|GRHL3_ENST00000236255.4_Missense_Mutation_p.R411K|GRHL3_ENST00000342072.4_Missense_Mutation_p.R313K|GRHL3_ENST00000356046.2_Missense_Mutation_p.R360K	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	406					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GGAGCTGAGAGGAAGATGCGC	0.597000													5	126					0	0	0.001168	0	0
FAM53A	152877	broad.mit.edu	37	4	1656773	1656773	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr4:1656773G>A	ENST00000308132.6	-	4	1006	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	FAM53A_ENST00000489363.1_Missense_Mutation_p.R272C|FAM53A_ENST00000472884.2_Missense_Mutation_p.R272C|FAM53A_ENST00000461064.1_Missense_Mutation_p.R272C	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	272						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CTCCGTTTGCGCCGGCTCCTC	0.667000													11	40					0	0	0.001368	0	0
DIS3L2	129563	broad.mit.edu	37	2	233128057	233128057	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr2:233128057C>T	ENST00000325385.7	+	13	1842	c.1566C>T	c.(1564-1566)agC>agT	p.S522S	DIS3L2_ENST00000409307.1_Silent_p.S522S|DIS3L2_ENST00000273009.6_Silent_p.S522S	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	522							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AGCATAGCAGCGAGGAGGTAC	0.542000													14	59					0	0	0.003163	0	0
XDH	7498	broad.mit.edu	37	2	31600014	31600014	+	Silent	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr2:31600014T>A	ENST00000379416.3	-	14	1380	c.1332A>T	c.(1330-1332)ccA>ccT	p.P444P		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	444					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTGTGGTTCCTGGCTTGAATA	0.502000													6	94					0	0	0.001168	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102552329	102552329	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr14:102552329T>C	ENST00000334701.7	-	4	942	c.661A>G	c.(661-663)Acc>Gcc	p.T221A	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.T99A|HSP90AA1_ENST00000441629.2_Intron	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	99					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TCAGCCTTGGTCATTCCAATT	0.433000													4	85					0	0	0.000248	0	0
ELMO1	9844	broad.mit.edu	37	7	37250998	37250998	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr7:37250998C>T	ENST00000310758.4	-	13	1726	c.1079G>A	c.(1078-1080)gGg>gAg	p.G360E	ELMO1_ENST00000442504.1_Missense_Mutation_p.G360E|ELMO1_ENST00000448602.1_Missense_Mutation_p.G360E	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	360	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TACAATGAACCCAAGCTTCTT	0.507000													4	52					0	0	0.000248	0	0
SLC9A8	23315	broad.mit.edu	37	20	48500552	48500552	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr20:48500552G>T	ENST00000417961.1	+	14	1698	c.1488G>T	c.(1486-1488)aaG>aaT	p.K496N	SLC9A8_ENST00000539601.1_Missense_Mutation_p.K261N|SLC9A8_ENST00000361573.2_Missense_Mutation_p.K480N|SLC9A8_ENST00000541138.1_Missense_Mutation_p.K180N	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	480						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			AGGACGCCAAGGCACACCGCA	0.612000													5	175					5.9392e-07	7.38553e-07	0.001168	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68272337	68272337	+	Splice_Site	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr14:68272337T>C	ENST00000347230.4	-	7	1156		c.e7-2		ZFYVE26_ENST00000555452.1_Splice_Site	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26						cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGCTGTTACCTGTAAGTCAAA	0.428000													7	54					0	0	0.001984	0	0
PLG	5340	broad.mit.edu	37	6	161143527	161143527	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr6:161143527G>T	ENST00000308192.9	+	10	1247	c.1184G>T	c.(1183-1185)gGa>gTa	p.G395V		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	395	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACCACCACAGGAAAGAAGTGT	0.493000													11	112					3.86212e-05	4.58866e-05	0.008291	1	0
NUP133	55746	broad.mit.edu	37	1	229637829	229637829	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:229637829T>C	ENST00000261396.3	-	3	413	c.322A>G	c.(322-324)Aac>Gac	p.N108D	NUP133_ENST00000366678.3_Missense_Mutation_p.N108D|NUP133_ENST00000537506.1_Missense_Mutation_p.N92D|NUP133_ENST00000366679.1_Missense_Mutation_p.N108D	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	108					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TCATCTATGTTAATGGTCAGC	0.363000													8	113					0	0	0.003080	0	0
HCN1	348980	broad.mit.edu	37	5	45262321	45262321	+	Missense_Mutation	SNP	G	G	A	rs140758934		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr5:45262321G>A	ENST00000303230.4	-	8	2432	c.2375C>T	c.(2374-2376)tCg>tTg	p.S792L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	792						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATGGGGCAGCGAGGGCTGCGA	0.637000													13	151					0	0	0.001855	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39280340	39280340	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr17:39280340T>C	ENST00000394014.1	-	1	79	c.35A>G	c.(34-36)gAc>gGc	p.D12G		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	12	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACAGCCCTGGTCAGAGCACAC	0.617000													23	108					0	0	0.003330	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509169	110509169	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr8:110509169A>T	ENST00000378402.5	+	64	10453	c.10349A>T	c.(10348-10350)aAg>aTg	p.K3450M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3450					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTGTGGAAAAGTGGTTTGAC	0.373000										HNSCC(38;0.096)			22	106					0	0	0.002780	0	0
FAM83A	84985	broad.mit.edu	37	8	124219421	124219421	+	Silent	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr8:124219421G>C	ENST00000518448.1	+	5	2812	c.798G>C	c.(796-798)gtG>gtC	p.V266V	FAM83A_ENST00000276699.6_Silent_p.V266V|FAM83A_ENST00000522648.1_Silent_p.V210V|FAM83A_ENST00000318462.6_Silent_p.V266V|FAM83A_ENST00000546351.1_Silent_p.V210V|FAM83A_ENST00000536633.1_Silent_p.V266V			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	266										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCGGACACGTGCACCGGAACA	0.622000													7	9					0	0	0.004482	0	0
DCLK1	9201	broad.mit.edu	37	13	36382386	36382386	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr13:36382386C>A	ENST00000255448.4	-	14	2049	c.1838G>T	c.(1837-1839)tGg>tTg	p.W613L	DCLK1_ENST00000379893.1_Missense_Mutation_p.W306L|DCLK1_ENST00000360631.3_Missense_Mutation_p.W613L	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	613	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AACATTATCCCAGTATGGAGA	0.428000													6	139					8.12818e-05	9.60968e-05	0.001984	1	0
ATP1A3	478	broad.mit.edu	37	19	42471441	42471441	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr19:42471441G>A	ENST00000545399.1	-	22	3165	c.3012C>T	c.(3010-3012)taC>taT	p.Y1004Y	ATP1A3_ENST00000543770.1_Silent_p.Y1002Y|ATP1A3_ENST00000602133.1_Silent_p.Y961Y|ATP1A3_ENST00000302102.5_Silent_p.Y991Y	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	991					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGATTTCGTCGTAGACGAAGA	0.652000													22	29					0	0	0.001882	0	0
ATR	545	broad.mit.edu	37	3	142215313	142215313	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr3:142215313C>T	ENST00000350721.4	-	34	5909	c.5788G>A	c.(5788-5790)Gta>Ata	p.V1930I	ATR_ENST00000383101.3_Missense_Mutation_p.V1866I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1930	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTTCTAGCTACCCTGGCACTC	0.488000								Other conserved DNA damage response genes					4	97					0	0	0.000248	0	0
NUDT19	390916	broad.mit.edu	37	19	33200163	33200163	+	Missense_Mutation	SNP	G	G	A	rs149924778	by1000genomes	TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr19:33200163G>A	ENST00000397061.3	+	2	787	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	263	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					ACAGTTCTACGAAGTGAGAAG	0.443000													11	234					0	0	0.008291	0	0
DLST	1743	broad.mit.edu	37	14	75369021	75369021	+	Silent	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr14:75369021C>G	ENST00000334220.4	+	15	1411	c.1350C>G	c.(1348-1350)ctC>ctG	p.L450L	DLST_ENST00000334212.6_Silent_p.L364L	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	450					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	p.L450L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		GAGTCCTCCTCCTGGATCTTT	0.547000													15	56					0	0	0.006122	0	0
CARD6	84674	broad.mit.edu	37	5	40852441	40852441	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr5:40852441G>A	ENST00000254691.5	+	3	1206	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	336					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GTTCAAGCACGAGATGTGACC	0.458000													12	83					0	0	0.001368	0	0
OR13D1	286365	broad.mit.edu	37	9	107457531	107457531	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr9:107457531T>A	ENST00000318763.5	+	1	872	c.829T>A	c.(829-831)Tcg>Acg	p.S277T		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	277			S -> L (in dbSNP:rs10761073).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TTCAGCGCACTCGATTGTGGT	0.388000													6	97					0	0	0.001168	0	0
CLCA2	9635	broad.mit.edu	37	1	86904619	86904619	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:86904619A>T	ENST00000370565.4	+	7	1195	c.1033A>T	c.(1033-1035)Att>Ttt	p.I345F		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	345	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GATTGTTGAAATTCATACCTT	0.418000													6	73					0	0	0.001984	0	0
DDI2	84301	broad.mit.edu	37	1	15959965	15959965	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:15959965G>A	ENST00000480945.1	+	4	708	c.537G>A	c.(535-537)caG>caA	p.Q179Q		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	179					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TGGAGCAGCAGCAGGACCGAG	0.398000													5	322					0	0	0.001168	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													5	84					0	0	0.001984	0	0
SLC5A7	60482	broad.mit.edu	37	2	108625031	108625031	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr2:108625031G>T	ENST00000264047.2	+	8	1282	c.1006G>T	c.(1006-1008)Ggt>Tgt	p.G336C	SLC5A7_ENST00000409059.1_Missense_Mutation_p.G336C|SLC5A7_ENST00000540517.1_Missense_Mutation_p.G231C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	336					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTCTTTCTTTGGTCTTGGTGC	0.443000													9	39					0.00448238	0.00505057	0.004482	1	0
PSD2	84249	broad.mit.edu	37	5	139193154	139193154	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr5:139193154C>A	ENST00000274710.3	+	3	837	c.632C>A	c.(631-633)gCa>gAa	p.A211E		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	211					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACATGGGGGCAGCTGGTGGT	0.687000													4	52					0.000602214	0.000691538	0.000602	1	0
OR5V1	81696	broad.mit.edu	37	6	29323045	29323045	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr6:29323045G>C	ENST00000377154.1	-	4	1227	c.928C>G	c.(928-930)Cca>Gca	p.P310A	OR5V1_ENST00000543825.1_Missense_Mutation_p.P310A			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAAATTGGTGGCTGCCACTTG	0.368000													4	113					0	0	0.000248	0	0
MACF1	23499	broad.mit.edu	37	1	39844998	39844998	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:39844998A>T	ENST00000564288.1	+	54	14177	c.13400A>T	c.(13399-13401)aAg>aTg	p.K4467M	MACF1_ENST00000361689.2_Missense_Mutation_p.K2405M|MACF1_ENST00000289893.4_Missense_Mutation_p.K2907M|MACF1_ENST00000567887.1_Missense_Mutation_p.K4504M|MACF1_ENST00000372915.3_Missense_Mutation_p.K4472M|MACF1_ENST00000317713.7_Missense_Mutation_p.K2405M|MACF1_ENST00000545844.1_Missense_Mutation_p.K2405M|MACF1_ENST00000539005.1_Missense_Mutation_p.K2384M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4472					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGGTTCACAAGGAGGCAAAC	0.468000													7	286					0	0	0.003080	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62652607	62652607	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr10:62652607T>C	ENST00000337910.5	-	5	780	c.443A>G	c.(442-444)gAc>gGc	p.D148G	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.D148G	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	148	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AGCTTCCAGGTCGGCATAGCG	0.498000													12	47					0	0	0.001855	0	0
LYST	1130	broad.mit.edu	37	1	235827826	235827826	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:235827826T>C	ENST00000389794.3	-	51	11308	c.11134A>G	c.(11134-11136)Aac>Gac	p.N3712D	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.N3712D			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3712					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCAGGCTGGTTGGAGAAAGCC	0.468000													4	58					0	0	0.000248	0	0
KIF6	221458	broad.mit.edu	37	6	39512320	39512320	+	Silent	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr6:39512320A>T	ENST00000538893.1	-	12	1461	c.1437T>A	c.(1435-1437)tcT>tcA	p.S479S	KIF6_ENST00000287152.7_Intron|KIF6_ENST00000373216.3_Intron|KIF6_ENST00000373213.4_Intron|KIF6_ENST00000373215.3_Intron			Q6ZMV9	KIF6_HUMAN	kinesin family member 6	479					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCATCACTTCAGAAAGGATAC	0.408000													38	32					0	0	0.005524	0	0
TCFL5	10732	broad.mit.edu	37	20	61490757	61490757	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr20:61490757C>G	ENST00000335351.3	-	3	1045	c.953G>C	c.(952-954)aGa>aCa	p.R318T	TCFL5_ENST00000217162.5_Missense_Mutation_p.R270T	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	318					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					AACTTTGTTTCTACTACCTAA	0.443000													35	329					0	0	0.004289	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139015	101139015	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chrX:101139015C>T	ENST00000458570.1	-	9	2201	c.871G>A	c.(871-873)Gtg>Atg	p.V291M	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000372782.3_Missense_Mutation_p.V462M|ZMAT1_ENST00000540921.1_Missense_Mutation_p.V462M			A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	291						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TGGTTTTCCACTACTTGTGAA	0.413000													31	34					0	0	0.002096	0	0
HIST1H3E	8353	broad.mit.edu	37	6	26225492	26225492	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr6:26225492A>T	ENST00000360408.1	+	1	110	c.110A>T	c.(109-111)aAg>aTg	p.K37M		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	37					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GGCGGCGTGAAGAAGCCCCAT	0.627000													87	56					0	0	0.003610	0	0
SLAIN2	57606	broad.mit.edu	37	4	48380075	48380075	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr4:48380075C>G	ENST00000264313.6	+	3	1119	c.701C>G	c.(700-702)tCa>tGa	p.S234*	SLAIN2_ENST00000512093.1_Nonsense_Mutation_p.S41*|SLAIN2_ENST00000506375.1_3'UTR	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	234						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CCTGGAAATTCAGGTAAGGAG	0.398000													3	128					0	0	0.004672	0	0
RASA2	5922	broad.mit.edu	37	3	141328366	141328366	+	Splice_Site	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr3:141328366G>T	ENST00000286364.3	+	22	2364		c.e22+1		RASA2_ENST00000452898.1_Splice_Site|RASA2_ENST00000509118.1_Splice_Site			Q15283	RASA2_HUMAN	RAS p21 protein activator 2						intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AAGATGGAAGGTAAATACACA	0.303000													5	54					3.59834e-05	4.29652e-05	0.001168	1	0
RANBP10	57610	broad.mit.edu	37	16	67778258	67778258	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr16:67778258G>A	ENST00000536251.1	-	0	974				RANBP10_ENST00000448631.2_Intron|RANBP10_ENST00000411657.2_Silent_p.D50D|RANBP10_ENST00000602677.1_Silent_p.D167D|RANBP10_ENST00000317506.3_Silent_p.D167D|RANBP10_ENST00000425512.2_Silent_p.D35D|RANBP10_ENST00000602887.1_5'UTR			Q6VN20	RBP10_HUMAN	RAN binding protein 10											endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		AGCCGATCACGTCTCCTGTGG	0.547000													19	79					0	0	0.007413	0	0
UTP20	27340	broad.mit.edu	37	12	101732715	101732715	+	Silent	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr12:101732715A>G	ENST00000261637.4	+	31	4167	c.3993A>G	c.(3991-3993)aaA>aaG	p.K1331K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1331					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAGTCAGTAAAGAGCTTGGCA	0.328000													19	36					0	0	0.006122	0	0
STAG1	10274	broad.mit.edu	37	3	136219098	136219098	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr3:136219098G>C	ENST00000383202.2	-	9	1125	c.869C>G	c.(868-870)tCt>tGt	p.S290C	STAG1_ENST00000236698.5_Missense_Mutation_p.S290C|STAG1_ENST00000434713.2_Missense_Mutation_p.S64C	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	290					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CTTAAAAATAGAGTTCATCAT	0.279000													4	8					0	0	0.000248	0	0
TUBB3	10381	broad.mit.edu	37	16	90001910	90001910	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr16:90001910G>T	ENST00000304984.5	+	3	3130	c.835G>T	c.(835-837)Gtg>Ttg	p.V279L	TUBB3_ENST00000556922.1_Missense_Mutation_p.V698L|TUBB3_ENST00000554444.1_Missense_Mutation_p.V279L|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000315491.7_Missense_Mutation_p.V351L			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	351					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CAACGTGAAGGTGGCCGTGTG	0.612000													15	250					0.000308642	0.000357846	0.003163	1	0
FGFR2	2263	broad.mit.edu	37	10	123310907	123310907	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr10:123310907G>T	ENST00000358487.5	-	5	793	c.521C>A	c.(520-522)aCt>aAt	p.T174N	FGFR2_ENST00000457416.2_Missense_Mutation_p.T174N|FGFR2_ENST00000351936.6_Missense_Mutation_p.T174N|FGFR2_ENST00000360144.3_Missense_Mutation_p.T85N|FGFR2_ENST00000356226.4_Missense_Mutation_p.T59N|FGFR2_ENST00000369061.4_Missense_Mutation_p.T174N|FGFR2_ENST00000346997.2_Missense_Mutation_p.T174N|FGFR2_ENST00000369056.1_Missense_Mutation_p.T174N|FGFR2_ENST00000357555.5_Missense_Mutation_p.T85N|FGFR2_ENST00000369059.1_Missense_Mutation_p.T59N|FGFR2_ENST00000369060.4_Missense_Mutation_p.T174N|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000359354.2_Missense_Mutation_p.T174N	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	174	Heparin-binding.|Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	AAACTTGACAGTGTTGGCCGC	0.517000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				15	81					1.15088e-07	1.45374e-07	0.004007	1	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													4	62					0.00024832	0.000290716	0.000248	1	0
VAV3	10451	broad.mit.edu	37	1	108307728	108307728	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:108307728C>T	ENST00000370056.4	-	9	1165	c.891G>A	c.(889-891)aaG>aaA	p.K297K	VAV3_ENST00000527011.1_Silent_p.K297K|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Silent_p.K232K	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	297	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTTCTTTTGTCTTAGAAATGT	0.338000													6	41					0	0	0.001984	0	0
THSD7A	221981	broad.mit.edu	37	7	11630196	11630196	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr7:11630196G>A	ENST00000423059.3	-	4	1595	c.1344C>T	c.(1342-1344)cgC>cgT	p.R448R		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	448	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTGGTTGCCGCGCCTCTTGT	0.557000										HNSCC(18;0.044)			10	48					0	0	0.008291	0	0
CLDN18	51208	broad.mit.edu	37	3	137749921	137749921	+	Missense_Mutation	SNP	G	G	A	rs141484279		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr3:137749921G>A	ENST00000183605.5	+	5	950	c.724G>A	c.(724-726)Gat>Aat	p.D242N	CLDN18_ENST00000343735.4_Missense_Mutation_p.D242N	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	242					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GAAGATATACGATGGAGGTGC	0.517000													27	149					0	0	0.007291	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													5	56					0	0	0.000602	0	0
LEPR	3953	broad.mit.edu	37	1	66074565	66074565	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:66074565G>T	ENST00000349533.6	+	12	1918	c.1733G>T	c.(1732-1734)gGa>gTa	p.G578V	LEPR_ENST00000371059.3_Missense_Mutation_p.G578V|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.G578V|LEPR_ENST00000371060.3_Missense_Mutation_p.G578V|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.G578V	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	578	Fibronectin type-III 2.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GGTTTAAGTGGAAAAGAAGTA	0.303000													16	28					1.33834e-09	1.71765e-09	0.007413	1	0
MYH1	4619	broad.mit.edu	37	17	10395815	10395815	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr17:10395815C>T	ENST00000226207.5	-	40	5832	c.5738G>A	c.(5737-5739)cGg>cAg	p.R1913Q	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1913						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AATGTCAGCCCGTTCCTCGGC	0.483000													4	165					0	0	0.000602	0	0
TMEM120B	144404	broad.mit.edu	37	12	122213541	122213541	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr12:122213541C>T	ENST00000540377.1	+	6	439	c.43C>T	c.(43-45)Cat>Tat	p.H15Y	TMEM120B_ENST00000449592.2_Silent_p.L311L			A0PK00	T120B_HUMAN	transmembrane protein 120B	0						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TCACCTTCCTCATCCTCTTCC	0.612000											OREG0022207	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	60					0	0	0.005524	0	0
MLLT6	4302	broad.mit.edu	37	17	36868952	36868952	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr17:36868952G>A	ENST00000325718.7	+	8	820	c.729G>A	c.(727-729)aaG>aaA	p.K243K	MLLT6_ENST00000378137.5_Silent_p.K243K	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	243					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGAGTCGAAAGGACAAAGAAC	0.592000			T	MLL	AL								4	80					0	0	0.000248	0	0
TRGC2	6967	broad.mit.edu	37	7	38282073	38282073	+	RNA	SNP	A	A	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr7:38282073A>C	ENST00000436911.2	-	0	381																											CATTGTGATGACATCTAGAAG	0.338000													8	207					0	0	0.004482	0	0
FAT2	2196	broad.mit.edu	37	5	150885203	150885203	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr5:150885203G>A	ENST00000261800.5	-	23	12985	c.12973C>T	c.(12973-12975)Ccc>Tcc	p.P4325S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4325					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCACCCGGGGCTGGCCCTGG	0.622000													16	18					0	0	0.004007	0	0
EMR1	2015	broad.mit.edu	37	19	6926416	6926416	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr19:6926416T>G	ENST00000312053.4	+	16	2063	c.2026T>G	c.(2026-2028)Ttc>Gtc	p.F676V	EMR1_ENST00000381404.4_Missense_Mutation_p.F624V|EMR1_ENST00000450315.3_Missense_Mutation_p.F499V|EMR1_ENST00000250572.8_Missense_Mutation_p.F611V|EMR1_ENST00000381407.5_Missense_Mutation_p.F535V	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	676					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GCACTACCTTTTCCTTGCCTG	0.517000													16	78					0	0	0.008871	0	0
C7orf50	84310	broad.mit.edu	37	7	1037377	1037377	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr7:1037377C>A	ENST00000397098.3	-	5	1395	c.469G>T	c.(469-471)Gag>Tag	p.E157*	C7orf50_ENST00000397100.2_Nonsense_Mutation_p.E157*|C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Nonsense_Mutation_p.E157*			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	157							protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		ACCGTCAGCTCTCGGGCCCGG	0.687000													5	100					0.00116845	0.00132904	0.001168	1	0
EPHA5	2044	broad.mit.edu	37	4	66213889	66213889	+	Silent	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr4:66213889T>A	ENST00000273854.3	-	15	3141	c.2541A>T	c.(2539-2541)ccA>ccT	p.P847P	EPHA5_ENST00000511294.1_Silent_p.P848P|EPHA5_ENST00000354839.4_Silent_p.P825P|EPHA5_ENST00000432638.2_Silent_p.P684P	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	847	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTATTGCTTCTGGGGCAGTCC	0.413000										TSP Lung(17;0.13)			13	50					0	0	0.001368	0	0
ARRDC2	27106	broad.mit.edu	37	19	18119198	18119198	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr19:18119198G>A	ENST00000222250.4	+	1	222	c.79G>A	c.(79-81)Ggc>Agc	p.G27S	ARRDC2_ENST00000379656.2_Intron|ARRDC2_ENST00000595712.1_Intron	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	27										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GTTTAGCGGCGGCCAGGCCGT	0.726000													8	26					0	0	0.004482	0	0
UMOD	7369	broad.mit.edu	37	16	20347992	20347992	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr16:20347992T>C	ENST00000396134.2	-	10	2020	c.1897A>G	c.(1897-1899)Aac>Gac	p.N633D	UMOD_ENST00000396138.4_Missense_Mutation_p.N649D|UMOD_ENST00000396142.2_Missense_Mutation_p.N600D|UMOD_ENST00000302509.4_Missense_Mutation_p.N600D|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Missense_Mutation_p.N633D|UMOD_ENST00000570689.1_Missense_Mutation_p.N600D	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	600					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGACCCAAGTTCAGGACACGG	0.527000													6	47					0	0	0.001168	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68272336	68272336	+	Splice_Site	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr14:68272336C>A	ENST00000347230.4	-	7	1156		c.e7-1		ZFYVE26_ENST00000555452.1_Splice_Site	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26						cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTGCTGTTACCTGTAAGTCAA	0.433000													7	54					2.0095e-06	2.47323e-06	0.001984	1	0
ASPH	444	broad.mit.edu	37	8	62556539	62556539	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr8:62556539T>G	ENST00000541428.1	-	8	747	c.587A>C	c.(586-588)gAt>gCt	p.D196A	ASPH_ENST00000517903.1_Missense_Mutation_p.D211A|ASPH_ENST00000379454.4_Missense_Mutation_p.D225A|ASPH_ENST00000356457.5_Missense_Mutation_p.D225A|ASPH_ENST00000445642.3_Missense_Mutation_p.D211A|ASPH_ENST00000522835.1_Missense_Mutation_p.D168A|ASPH_ENST00000518068.1_Missense_Mutation_p.D182A|ASPH_ENST00000517847.2_Missense_Mutation_p.D211A|ASPH_ENST00000522919.1_Missense_Mutation_p.D38A	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	225	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTCTTCCATATCCTGATTACA	0.328000													7	19					0	0	0.003080	0	0
SCN11A	11280	broad.mit.edu	37	3	38888436	38888436	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr3:38888436C>G	ENST00000450244.1	-	26	5323	c.5125G>C	c.(5125-5127)Gag>Cag	p.E1709Q	SCN11A_ENST00000456224.3_Missense_Mutation_p.E1671Q|SCN11A_ENST00000302328.3_Missense_Mutation_p.E1709Q			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1709					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGAACTTCTCTTCCATCATT	0.458000													30	95					0	0	0.007291	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102384193	102384193	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr14:102384193C>T	ENST00000422945.2	+	15	1541	c.1445C>T	c.(1444-1446)aCc>aTc	p.T482I	PPP2R5C_ENST00000334743.5_Missense_Mutation_p.T451I|PPP2R5C_ENST00000328724.5_Intron|PPP2R5C_ENST00000350249.3_Intron	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	451					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAAGCCAGCACCATGAGCATT	0.502000													45	108					0	0	0.003214	0	0
GPR98	84059	broad.mit.edu	37	5	90040951	90040951	+	Silent	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr5:90040951T>A	ENST00000405460.2	+	51	10734	c.10638T>A	c.(10636-10638)ccT>ccA	p.P3546P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3546					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGAAGTACCTTCTGCTTATG	0.408000													9	287					0	0	0.008291	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117789510	117789510	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr11:117789510G>C	ENST00000528626.1	-	2	138	c.65C>G	c.(64-66)gCc>gGc	p.A22G	TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A22G|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A22G|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A22G|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.A22G	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	22	12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		AGATGCCTGGGCTGGAGATGC	0.627000													9	52					0	0	0.006214	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390542	61390542	+	RNA	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr18:61390542C>T	ENST00000544088.1	+	0	1150				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CCAATGAGAGCTCAGTTCAAG	0.517000													29	66					0	0	0.007291	0	0
CORO2A	7464	broad.mit.edu	37	9	100895440	100895440	+	Silent	SNP	A	A	G	rs143485689		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr9:100895440A>G	ENST00000343933.5	-	5	785	c.528T>C	c.(526-528)atT>atC	p.I176I	CORO2A_ENST00000375077.4_Silent_p.I176I	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	176					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGTGACAGCTAATCGTACTCA	0.542000													5	102					0	0	0.001168	0	0
KIAA0196	9897	broad.mit.edu	37	8	126091066	126091066	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr8:126091066C>T	ENST00000318410.7	-	6	974	c.625G>A	c.(625-627)Gag>Aag	p.E209K	KIAA0196_ENST00000517845.1_Missense_Mutation_p.E61K	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	209					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAATAGCTCTCGGGATAGTTG	0.423000													17	53					0	0	0.006122	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													5	97					0	0	0.006214	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67860602	67860602	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr16:67860602C>A	ENST00000388833.3	+	12	1624	c.1247C>A	c.(1246-1248)aCg>aAg	p.T416K	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.T470K|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.T401K	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	416					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CAGAAAGAGACGTTCCCAGAT	0.493000													42	83					3.43241e-23	4.60212e-23	0.002222	1	0
TGFBR2	7048	broad.mit.edu	37	3	30732963	30732963	+	Nonsense_Mutation	SNP	G	G	T	rs121918714		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr3:30732963G>T	ENST00000295754.5	+	7	1958	c.1576G>T	c.(1576-1578)Gag>Tag	p.E526*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.E551*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	526	Protein kinase.		E -> Q (in esophageal cancer).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCACGACCCAGAGGCCCGTCT	0.602000													32	26					2.08457e-15	2.76407e-15	0.002096	1	0
AARS2	57505	broad.mit.edu	37	6	44272035	44272035	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr6:44272035C>T	ENST00000244571.4	-	14	1892	c.1890G>A	c.(1888-1890)gcG>gcA	p.A630A	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	630					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CCGTATGCTTCGCCATGCAGC	0.627000											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	78					0	0	0.002450	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553868	140553868	+	Silent	SNP	C	C	T	rs149570059		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr5:140553868C>T	ENST00000231137.3	+	1	1626	c.1452C>T	c.(1450-1452)gcC>gcT	p.A484A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		484	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACCAACGCCCAGGTCATCT	0.642000													28	112					0	0	0.005443	0	0
MAN2A2	4122	broad.mit.edu	37	15	91447520	91447520	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr15:91447520G>A	ENST00000360468.3	+	1	101	c.83G>A	c.(82-84)cGa>cAa	p.R28Q	MAN2A2_ENST00000559717.1_Missense_Mutation_p.R28Q	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	28					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ATGCTGGACCGAGTGCAACAC	0.547000													23	76					0	0	0.002299	0	0
PRKD1	5587	broad.mit.edu	37	14	30046531	30046531	+	Silent	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr14:30046531C>A	ENST00000331968.5	-	18	2881	c.2652G>T	c.(2650-2652)ctG>ctT	p.L884L	PRKD1_ENST00000415220.2_Silent_p.L892L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	884					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TTGGATTGATCAGGTGTGTGG	0.527000													34	101					1.22384e-17	1.63178e-17	0.002836	1	0
FCRL4	83417	broad.mit.edu	37	1	157557209	157557209	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:157557209A>G	ENST00000271532.1	-	5	839	c.704T>C	c.(703-705)gTc>gCc	p.V235A	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	235	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TGACAGGATGACCTCGCCATC	0.532000													24	289					0	0	0.004656	0	0
ITGA1	3672	broad.mit.edu	37	5	52211331	52211331	+	Missense_Mutation	SNP	T	T	G	rs138709169		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr5:52211331T>G	ENST00000282588.6	+	15	2353	c.1895T>G	c.(1894-1896)tTt>tGt	p.F632C		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	632					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ACACTGAAATTTTTTGGCCAG	0.423000													3	143					0	0	0.004672	0	0
ATR	545	broad.mit.edu	37	3	142281919	142281919	+	Missense_Mutation	SNP	G	G	A	rs146405935	by1000genomes	TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr3:142281919G>A	ENST00000350721.4	-	4	446	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	ATR_ENST00000383101.3_Missense_Mutation_p.R109W	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	109					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCTGCAATCCGCAGAAGTCTC	0.313000								Other conserved DNA damage response genes					5	158					0	0	0.000602	0	0
DFNA5	1687	broad.mit.edu	37	7	24758712	24758712	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr7:24758712T>A	ENST00000545231.1	-	6	1188	c.38A>T	c.(37-39)gAg>gTg	p.E13V	DFNA5_ENST00000419307.1_Missense_Mutation_p.E13V|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.E177V|DFNA5_ENST00000409970.1_Missense_Mutation_p.E13V|DFNA5_ENST00000342947.3_Missense_Mutation_p.E177V			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	177					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						ACACTTCTCCTCGACCTGCAT	0.577000													29	135					0	0	0.007291	0	0
NOP56	10528	broad.mit.edu	37	20	2636321	2636321	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr20:2636321A>G	ENST00000329276.5	+	7	1354	c.838A>G	c.(838-840)Agc>Ggc	p.S280G		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	280	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						ATACCGCCAGAGCCTACACAC	0.512000													19	160					0	0	0.007413	0	0
KMT2A	4297	broad.mit.edu	37	11	118377362	118377362	+	Splice_Site	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr11:118377362G>T	ENST00000534358.1	+	27	10777		c.e27+1		KMT2A_ENST00000389506.5_Splice_Site|KMT2A_ENST00000354520.4_Splice_Site	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CAGGCACAGGGTGAGAGATCC	0.483000													6	78					0.00116845	0.00132904	0.001168	1	0
WDR72	256764	broad.mit.edu	37	15	53998227	53998227	+	Silent	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr15:53998227T>C	ENST00000396328.1	-	10	1238	c.999A>G	c.(997-999)aaA>aaG	p.K333K	WDR72_ENST00000360509.5_Silent_p.K333K|WDR72_ENST00000557913.1_Silent_p.K330K|WDR72_ENST00000559418.1_Silent_p.K343K	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	333										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAAAAGGCTCTTTCCTTTCAT	0.403000													4	31					0	0	0.000248	0	0
CFHR2	3080	broad.mit.edu	37	1	196927141	196927141	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:196927141T>C	ENST00000367415.4	+	4	665	c.551T>C	c.(550-552)cTt>cCt	p.L184P	CFHR2_ENST00000367421.3_Missense_Mutation_p.L184P|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	184	Sushi 3.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TTGTATCAACTTGAGGGTAAC	0.398000													3	74					0	0	0.004672	0	0
GOSR1	9527	broad.mit.edu	37	17	28849344	28849344	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr17:28849344G>A	ENST00000225724.5	+	9	773	c.701G>A	c.(700-702)gGg>gAg	p.G234E	GOSR1_ENST00000581721.1_Missense_Mutation_p.G220E|GOSR1_ENST00000467337.2_Missense_Mutation_p.G169E|GOSR1_ENST00000451249.2_Missense_Mutation_p.G232E	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	234					intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						CTCATCCTAGGGGGTGTTATT	0.498000													8	395					0	0	0.004482	0	0
TLR1	7096	broad.mit.edu	37	4	38800207	38800207	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr4:38800207C>T	ENST00000308979.2	-	4	519	c.246G>A	c.(244-246)caG>caA	p.Q82Q	TLR1_ENST00000502213.2_Silent_p.Q82Q	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	82					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TATCAAGATACTGGATTCTAT	0.343000													8	192					0	0	0.003080	0	0
DNAH5	1767	broad.mit.edu	37	5	13762885	13762885	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr5:13762885C>T	ENST00000265104.4	-	60	10331	c.10227G>A	c.(10225-10227)tgG>tgA	p.W3409*	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3409	Stalk (By similarity).		W -> S (in CILD3).		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TAGCTTTCGTCCAGGAACAAA	0.448000									Kartagener syndrome				29	106					0	0	0.005443	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs143747399	by1000genomes	TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433000													3	50					0	0	0.000248	0	0
TCEB3CL	728929	broad.mit.edu	37	18	44549224	44549224	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr18:44549224G>A	ENST00000451265.1	-	1	1310	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_001100817.1	NP_001094287.1			transcription elongation factor B polypeptide 3C-like											central_nervous_system(1)|lung(1)|prostate(1)	3						ACCGAGTAGGGGACCCCTTCC	0.637000													15	841					0	0	0.001368	0	0
ZFP64	55734	broad.mit.edu	37	20	50705115	50705115	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr20:50705115G>A	ENST00000361387.2	-	8	1104	c.1044C>T	c.(1042-1044)caC>caT	p.H348H	ZFP64_ENST00000371523.4_Silent_p.H129H|ZFP64_ENST00000371518.2_Silent_p.H348H	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCACCGCATGTGCATGGTCA	0.522000													83	121					0	0	0.003610	0	0
CLHC1	130162	broad.mit.edu	37	2	55407666	55407666	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr2:55407666T>A	ENST00000401408.1	-	11	1709	c.1364A>T	c.(1363-1365)cAg>cTg	p.Q455L	CLHC1_ENST00000406076.1_Missense_Mutation_p.Q333L|CLHC1_ENST00000407122.1_Missense_Mutation_p.Q455L|CLHC1_ENST00000406437.2_Missense_Mutation_p.Q6L|CLHC1_ENST00000494539.1_Intron	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1																		GTCCTTCAACTGCTGTATGTA	0.393000													4	75					0	0	0.000602	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508758	37508758	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr10:37508758T>A	ENST00000374660.1	+	40	4406	c.4307T>A	c.(4306-4308)aTa>aAa	p.I1436K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I1317K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.I1317K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1373						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AATGAGGAGATATTTAATTAC	0.274000													4	2					0	0	0.000248	0	0
HIST2H2AB	317772	broad.mit.edu	37	1	149859412	149859412	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:149859412A>T	ENST00000331128.3	-	1	54	c.55T>A	c.(55-57)Tcg>Acg	p.S19T		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	19					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGCGGGACGAGCGCGACTTG	0.622000													5	90					0	0	0.001168	0	0
CHST12	55501	broad.mit.edu	37	7	2472365	2472365	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr7:2472365G>A	ENST00000258711.6	+	2	226	c.91G>A	c.(91-93)Gcc>Acc	p.A31T		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	31					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CAGCGCAGGCGCCGCGCACTT	0.687000													68	63					0	0	0.003610	0	0
XIST	7503	broad.mit.edu	37	X	73063633	73063633	+	RNA	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chrX:73063633G>T	ENST00000429829.1	-	0	8955					NR_001564.2																						CACAGATCAGGAGCAAATGTA	0.423000													14	16					0.000151284	0.000177982	0.001855	1	0
CACNG8	59283	broad.mit.edu	37	19	54466493	54466493	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr19:54466493G>A	ENST00000270458.2	+	1	200	c.97G>A	c.(97-99)Ggc>Agc	p.G33S		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	33					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGCCGCCTTCGGCCTCATGAC	0.667000													9	23					0	0	0.006214	0	0
CENPB	1059	broad.mit.edu	37	20	3766487	3766487	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr20:3766487T>C	ENST00000379751.4	-	1	850	c.644A>G	c.(643-645)gAc>gGc	p.D215G		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	215					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CGGCCGTCCGTCGCCTCCGCA	0.711000													14	144					0	0	0.004990	0	0
TRRAP	8295	broad.mit.edu	37	7	98548528	98548528	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr7:98548528C>G	ENST00000359863.4	+	38	5552	c.5343C>G	c.(5341-5343)ttC>ttG	p.F1781L	TRRAP_ENST00000355540.3_Missense_Mutation_p.F1763L|TRRAP_ENST00000446306.3_Missense_Mutation_p.F1762L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1781					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATCCTGCTTTCTTGTACAGCT	0.418000													7	207					0	0	0.001984	0	0
OR51B2	79345	broad.mit.edu	37	11	5344901	5344901	+	Silent	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr11:5344901A>G	ENST00000328813.2	-	1	681	c.627T>C	c.(625-627)tgT>tgC	p.C209C	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	209			C -> S (in dbSNP:rs7937237).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATGATCAGACAGTCTAGGA	0.403000													5	24					0	0	0.000602	0	0
HS2ST1	9653	broad.mit.edu	37	1	87558326	87558326	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:87558326C>T	ENST00000370550.5	+	4	925	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	HS2ST1_ENST00000356813.4_Missense_Mutation_p.R162W|RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.R162W|HS2ST1_ENST00000370551.4_Missense_Mutation_p.R188W	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	188						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		ACCAGGGTTACGGAGACGAAA	0.303000													5	29					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179602873	179602873	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr2:179602873C>G	ENST00000589042.1	-	49	14531	c.14307G>C	c.(14305-14307)gaG>gaC	p.E4769D	TTN_ENST00000342175.6_Missense_Mutation_p.E4598D|TTN_ENST00000460472.2_Missense_Mutation_p.E4406D|TTN_ENST00000591111.1_Missense_Mutation_p.E4452D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E3525D|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4531D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4452	Ig-like 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCATGTATACTCGCCGCAGT	0.453000													11	65					0	0	0.000978	0	0
COL5A3	50509	broad.mit.edu	37	19	10108779	10108779	+	Splice_Site	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr19:10108779T>C	ENST00000264828.3	-	9	1242	c.1158_splice	c.e9+1	p.K386_splice		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	386	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACCCCTCACCTTTTCAATCAC	0.552000													4	290					0	0	0.000248	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423097	47423097	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr19:47423097G>C	ENST00000404338.3	+	1	1165	c.1165G>C	c.(1165-1167)Gat>Cat	p.D389H		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	389	FF 2.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GACCCCATGGGATGCCACCAG	0.448000													29	97					0	0	0.007291	0	0
NBPF20	100288142	broad.mit.edu	37	1	148342511	148342511	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:148342511T>G	ENST00000369202.1	-	5	722	c.525A>C	c.(523-525)caA>caC	p.Q175H	NBPF20_ENST00000414710.2_Missense_Mutation_p.Q175H					neuroblastoma breakpoint family, member 20											breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						CCTCCTCAACTTGAACATCTT	0.418000													56	499					0	0	0.003610	0	0
NFATC2	4773	broad.mit.edu	37	20	50140072	50140072	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr20:50140072C>T	ENST00000371564.3	-	2	927	c.708G>A	c.(706-708)tcG>tcA	p.S236S	NFATC2_ENST00000414705.1_Silent_p.S216S|NFATC2_ENST00000396009.3_Silent_p.S236S	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	236	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGGGCACGGGCGAGTGGCGGC	0.667000													22	200					0	0	0.006320	0	0
LRRC66	339977	broad.mit.edu	37	4	52861436	52861436	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr4:52861436T>C	ENST00000343457.3	-	4	1758	c.1752A>G	c.(1750-1752)atA>atG	p.I584M		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	584						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GGGAAGCTGTTATTTCTCCGG	0.498000													7	247					0	0	0.003080	0	0
SERPINA5	5104	broad.mit.edu	37	14	95058474	95058474	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr14:95058474G>T	ENST00000329597.7	+	6	1329	c.1119G>T	c.(1117-1119)agG>agT	p.R373S	SERPINA5_ENST00000553780.1_Missense_Mutation_p.R373S|SERPINA5_ENST00000554276.1_Missense_Mutation_p.R373S|SERPINA3_ENST00000553947.1_Splice_Site|SERPINA5_ENST00000554866.1_Missense_Mutation_p.R373S	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	373		Reactive bond.			fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TCACTTTCAGGTCGGCCCGCC	0.562000													9	442					0.000274275	0.000319544	0.004482	1	0
CENPB	1059	broad.mit.edu	37	20	3766501	3766501	+	Silent	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr20:3766501C>A	ENST00000379751.4	-	1	836	c.630G>T	c.(628-630)ggG>ggT	p.G210G		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	210					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CTCCGCACAGCCCCGCGGCCT	0.711000													19	143					2.4624e-09	3.14348e-09	0.008871	1	0
CRYZL1	9946	broad.mit.edu	37	21	34997056	34997056	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr21:34997056G>T	ENST00000361534.2	-	4	288	c.149C>A	c.(148-150)cCt>cAt	p.P50H	CRYZL1_ENST00000413017.2_Missense_Mutation_p.P26H|CRYZL1_ENST00000290244.5_Missense_Mutation_p.P26H|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000381540.3_Missense_Mutation_p.P26H|CRYZL1_ENST00000445393.1_Missense_Mutation_p.P26H|CRYZL1_ENST00000381554.3_Missense_Mutation_p.P26H			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	26					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						CTCTGTAACAGGAAGATCTTC	0.299000													14	57					1.3612e-06	1.68396e-06	0.003163	1	0
TBX19	9095	broad.mit.edu	37	1	168274253	168274253	+	Silent	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:168274253C>A	ENST00000367821.3	+	6	786	c.735C>A	c.(733-735)ggC>ggA	p.G245G		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	245					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TAGTGGGAGGCTGGATCTTTT	0.493000													16	73					2.94398e-08	3.73839e-08	0.007413	1	0
ROR1	4919	broad.mit.edu	37	1	64643163	64643163	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:64643163G>A	ENST00000371079.1	+	9	1814	c.1439G>A	c.(1438-1440)gGt>gAt	p.G480D	ROR1_ENST00000545203.1_5'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	480	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GAAGAATTGGGTGAGTGTGCC	0.423000													21	270					0	0	0.001523	0	0
CD9	928	broad.mit.edu	37	12	6342628	6342628	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr12:6342628C>G	ENST00000382518.1	+	5	760	c.324C>G	c.(322-324)atC>atG	p.I108M	CD9_ENST00000009180.4_Missense_Mutation_p.I108M|CD9_ENST00000481267.1_3'UTR|CD9_ENST00000382515.2_Missense_Mutation_p.I39M			P21926	CD9_HUMAN	CD9 molecule	108					cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						CTGCGGCCATCTGGGGATATT	0.557000													29	38					0	0	0.005443	0	0
TNRC6A	27327	broad.mit.edu	37	16	24802394	24802394	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr16:24802394A>G	ENST00000395799.3	+	6	2560	c.2431A>G	c.(2431-2433)Aca>Gca	p.T811A	TNRC6A_ENST00000315183.7_Missense_Mutation_p.T811A	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	811	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTCTGCTGCTACAGGAATGGT	0.517000													9	29					0	0	0.004482	0	0
MAP1A	4130	broad.mit.edu	37	15	43819557	43819557	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr15:43819557G>C	ENST00000382031.1	+	5	6631	c.6600G>C	c.(6598-6600)gaG>gaC	p.E2200D	MAP1A_ENST00000399453.1_Missense_Mutation_p.E1962D|MAP1A_ENST00000300231.5_Missense_Mutation_p.E1962D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1962						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ATCCTGATGAGAGAAGCTTTC	0.562000													24	62					0	0	0.002780	0	0
PZP	5858	broad.mit.edu	37	12	9313713	9313713	+	Splice_Site	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr12:9313713C>T	ENST00000261336.2	-	23	2817		c.e23-1		PZP_ENST00000381997.2_Splice_Site|PZP_ENST00000539983.1_Splice_Site	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACATTAGCACCTTTAGAAACA	0.423000													7	57					0	0	0.003080	0	0
RBM26	64062	broad.mit.edu	37	13	79896555	79896555	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr13:79896555G>C	ENST00000438737.2	-	21	3303	c.2863C>G	c.(2863-2865)Ctg>Gtg	p.L955V	RBM26_ENST00000438724.1_Missense_Mutation_p.L931V|RBM26_ENST00000267229.7_Missense_Mutation_p.L928V			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	955	RRM 2.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTCCATGCCAGTTTTAGATCT	0.299000													21	17					0	0	0.005443	0	0
PTER	9317	broad.mit.edu	37	10	16526619	16526619	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr10:16526619C>G	ENST00000378000.1	+	3	482	c.236C>G	c.(235-237)gCc>gGc	p.A79G	PTER_ENST00000423462.2_Missense_Mutation_p.A79G|PTER_ENST00000535784.2_Missense_Mutation_p.A79G|PTER_ENST00000298942.3_Missense_Mutation_p.A79G	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	79					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						GAGACAGAAGCCATAAAGGAA	0.393000													4	74					0	0	0.000248	0	0
FAM162B	221303	broad.mit.edu	37	6	117086362	117086362	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr6:117086362G>A	ENST00000368557.4	-	2	375	c.229C>T	c.(229-231)Ctg>Ttg	p.L77L		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	77						integral to membrane				large_intestine(2)|lung(4)	6						GTCCACAGCAGGATTTTCTTG	0.632000													14	48					0	0	0.004007	0	0
ZNF446	55663	broad.mit.edu	37	19	58991738	58991738	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr19:58991738C>T	ENST00000596341.1	+	7	3065	c.845C>T	c.(844-846)aCg>aTg	p.T282M	ZNF446_ENST00000335841.4_Missense_Mutation_p.R305C|ZNF446_ENST00000594369.1_Missense_Mutation_p.T333M			Q9NWS9	ZN446_HUMAN	zinc finger protein 446	333	Pro-rich.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AAGCCCTACACGTGCGAGCAG	0.682000													7	22					0	0	0.001984	0	0
FCER2	2208	broad.mit.edu	37	19	7754314	7754314	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr19:7754314T>G	ENST00000346664.5	-	11	943	c.731A>C	c.(730-732)aAc>aCc	p.N244T	FCER2_ENST00000360067.4_Missense_Mutation_p.N243T|FCER2_ENST00000597921.1_Missense_Mutation_p.N244T	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	244	C-type lectin.				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						TGGAGCCCAGTTGCTGGAGCA	0.667000													2	7					0	0	0.004672	0	0
SGK2	10110	broad.mit.edu	37	20	42195754	42195754	+	Missense_Mutation	SNP	C	C	T	rs141029147		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr20:42195754C>T	ENST00000373100.1	+	4	543	c.83C>T	c.(82-84)cCa>cTa	p.P28L	SGK2_ENST00000341458.4_Missense_Mutation_p.P88L|SGK2_ENST00000426287.1_Missense_Mutation_p.P54L|SGK2_ENST00000423407.3_Missense_Mutation_p.P28L|SGK2_ENST00000373092.3_Missense_Mutation_p.P28L|SGK2_ENST00000373077.1_Missense_Mutation_p.P28L			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	88					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCAGCCAACCCAAAGTGAGTT	0.512000													4	76					0	0	0.001168	0	0
SRD5A2	6716	broad.mit.edu	37	2	31805847	31805847	+	RNA	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr2:31805847G>A	ENST00000405650.1	-	0	289							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GTAGCCGCCGGCTTCAGGCTC	0.721000													8	27					0	0	0.004482	0	0
BTNL9	153579	broad.mit.edu	37	5	180483002	180483002	+	Silent	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr5:180483002T>G	ENST00000327705.9	+	9	1173	c.942T>G	c.(940-942)gcT>gcG	p.A314A	BTNL9_ENST00000376842.3_Silent_p.A315A|BTNL9_ENST00000376841.2_Silent_p.A314A	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	314	B30.2/SPRY.					integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGACGGGCTGAAGGCCAGG	0.522000													4	172					0	0	0.000602	0	0
WFDC3	140686	broad.mit.edu	37	20	44416545	44416545	+	Silent	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr20:44416545T>C	ENST00000243938.4	-	4	371	c.288A>G	c.(286-288)ccA>ccG	p.P96P	WFDC3_ENST00000481847.1_5'UTR|WFDC3_ENST00000372632.2_Intron|WFDC3_ENST00000372630.2_Intron	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	96	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				TCTTTACACCTGGACATGTCT	0.473000													14	133					0	0	0.004007	0	0
SPATC1	375686	broad.mit.edu	37	8	145101649	145101649	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr8:145101649C>A	ENST00000377470.3	+	5	1670	c.1568C>A	c.(1567-1569)gCg>gAg	p.A523E	SPATC1_ENST00000447830.2_3'UTR	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	523										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGCACCCTGCGCTGACCGAG	0.642000													18	49					3.52763e-06	4.29762e-06	0.004990	1	0
HOXD12	3238	broad.mit.edu	37	2	176964535	176964535	+	Silent	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr2:176964535T>C	ENST00000406506.2	+	1	78	c.6T>C	c.(4-6)tgT>tgC	p.C2C	HOXD12_ENST00000404162.2_Silent_p.C2C			P35452	HXD12_HUMAN	homeobox D12	2						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TGGAGATGTGTGAGCGCAGTC	0.542000													76	85					0	0	0.003610	0	0
APAF1	317	broad.mit.edu	37	12	99042256	99042256	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr12:99042256A>T	ENST00000357310.1	+	2	696	c.119A>T	c.(118-120)gAg>gTg	p.E40V	APAF1_ENST00000547045.1_Missense_Mutation_p.E40V|APAF1_ENST00000333991.1_Missense_Mutation_p.E40V|APAF1_ENST00000549007.1_Missense_Mutation_p.E40V|APAF1_ENST00000359972.2_Missense_Mutation_p.E40V|APAF1_ENST00000339433.3_Missense_Mutation_p.E40V|APAF1_ENST00000552268.1_Missense_Mutation_p.E40V|APAF1_ENST00000550527.1_Missense_Mutation_p.E40V|APAF1_ENST00000547743.1_Missense_Mutation_p.E40V|APAF1_ENST00000551964.1_Missense_Mutation_p.E40V	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	40	CARD.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	ATATCAGAAGAGGAAAAAGTA	0.348000													4	112					0	0	0.000248	0	0
RANBP2	5903	broad.mit.edu	37	2	109383950	109383950	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr2:109383950C>G	ENST00000283195.6	+	20	7081	c.6955C>G	c.(6955-6957)Cta>Gta	p.L2319V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2319	RanBD1 3.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTACCTGATCTAGTTGAAGT	0.393000													102	164					0	0	0.003610	0	0
MIA3	375056	broad.mit.edu	37	1	222802470	222802470	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:222802470T>A	ENST00000344922.5	+	4	1933	c.1908T>A	c.(1906-1908)gaT>gaA	p.D636E	MIA3_ENST00000344441.6_Missense_Mutation_p.D636E|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	636					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CCTCTCCAGATGAGATTGATT	0.468000													35	158					0	0	0.004289	0	0
LPAR1	1902	broad.mit.edu	37	9	113704008	113704008	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr9:113704008C>T	ENST00000374431.3	-	4	869	c.486G>A	c.(484-486)cgG>cgA	p.R162R	LPAR1_ENST00000538760.1_Silent_p.R163R|LPAR1_ENST00000374430.2_Silent_p.R162R|LPAR1_ENST00000358883.4_Silent_p.R162R|LPAR1_ENST00000541779.1_Silent_p.R163R	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	162					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CCACTACCCGCCGGTTGCTCA	0.512000													22	74					0	0	0.002299	0	0
ZNF318	24149	broad.mit.edu	37	6	43305026	43305026	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr6:43305026T>G	ENST00000361428.2	-	10	6787	c.6710A>C	c.(6709-6711)aAa>aCa	p.K2237T	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2237					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CACTGGAGCTTTAACCAAATT	0.493000													5	119					0	0	0.000602	0	0
CCL23	6368	broad.mit.edu	37	17	34341417	34341417	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr17:34341417G>T	ENST00000293280.2	-	2	163	c.93C>A	c.(91-93)ttC>ttA	p.F31L	CCL23_ENST00000591423.1_Missense_Mutation_p.F31L	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	31				MLVTALGSQARVTKDAETEFMMSKLPLENPVLL -> HAFL LPLVPGPGHKRCRDRVHECQSFHWKIQYFW (in Ref. 1).	cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	TTGACATCATGAACTCTGTCT	0.483000													9	30					3.09899e-07	3.89401e-07	0.004482	1	0
METAP2	10988	broad.mit.edu	37	12	95887871	95887871	+	Silent	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr12:95887871A>G	ENST00000323666.5	+	5	697	c.468A>G	c.(466-468)aaA>aaG	p.K156K	METAP2_ENST00000550777.1_Silent_p.K120K|METAP2_ENST00000546753.1_Silent_p.K133K|METAP2_ENST00000551840.1_Silent_p.K155K|METAP2_ENST00000261220.9_Silent_p.K133K	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	156					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	AAGAAAAGAAAGCATTAGATC	0.403000													3	54					0	0	0.004672	0	0
ACSL4	2182	broad.mit.edu	37	X	108902623	108902623	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chrX:108902623T>A	ENST00000340800.2	-	16	2442	c.1938A>T	c.(1936-1938)gaA>gaT	p.E646D	ACSL4_ENST00000469796.2_Missense_Mutation_p.E646D|ACSL4_ENST00000348502.6_Missense_Mutation_p.E605D	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	646					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GTATTTCAGCTTCCATAGCAG	0.393000													31	26					0	0	0.001786	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													5	91					0	0	0.000602	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64604277	64604277	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr11:64604277G>C	ENST00000342711.5	-	11	1317	c.1318C>G	c.(1318-1320)Ccc>Gcc	p.P440A		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	440					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TGGTCTGTGGGGGCGTGCAGG	0.701000													7	9					0	0	0.003080	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148944475	148944475	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr4:148944475C>G	ENST00000336498.3	+	19	2017	c.1778C>G	c.(1777-1779)cCa>cGa	p.P593R	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.P242R	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	593					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GCATCACCCCCAAATGCGCCA	0.512000													9	57					0	0	0.004482	0	0
TIPIN	54962	broad.mit.edu	37	15	66645273	66645273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr15:66645273G>A	ENST00000261881.4	-	2	98	c.13C>T	c.(13-15)Cag>Tag	p.Q5*	TIPIN_ENST00000367709.4_5'UTR	NM_017858.2	NP_060328.2	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	5					cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						CCATTCTCCTGTGGTTCTAGC	0.413000													11	46					0	0	0.001368	0	0
CCR2	729230	broad.mit.edu	37	3	46399419	46399419	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr3:46399419T>A	ENST00000292301.4	+	2	886	c.401T>A	c.(400-402)cTg>cAg	p.L134Q	CCR2_ENST00000445132.2_Missense_Mutation_p.L134Q|CCR2_ENST00000400888.2_Missense_Mutation_p.L134Q|CCR2_ENST00000465202.1_Intron	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	134					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		ATCATCCTCCTGACAATCGAT	0.463000													22	419					0	0	0.003330	0	0
OR2G3	81469	broad.mit.edu	37	1	247769355	247769355	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:247769355C>T	ENST00000320002.2	+	1	500	c.468C>T	c.(466-468)tcC>tcT	p.S156S	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGCTAGTTCCCTAATCCATG	0.483000													4	139					0	0	0.000602	0	0
CACNA1H	8912	broad.mit.edu	37	16	1262016	1262016	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr16:1262016T>C	ENST00000348261.5	+	25	4885	c.4637T>C	c.(4636-4638)gTg>gCg	p.V1546A	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1546A|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1546A	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1546					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AGCTTCTTCGTGCTCAACATG	0.642000													98	175					0	0	0.003610	0	0
CHD7	55636	broad.mit.edu	37	8	61777711	61777711	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr8:61777711C>T	ENST00000423902.2	+	38	8692	c.8213C>T	c.(8212-8214)aCg>aTg	p.T2738M	CHD7_ENST00000524602.1_Missense_Mutation_p.T689M	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2738					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTGGCCTCCACGTCAGGGATC	0.612000													9	17					0	0	0.006214	0	0
SEMA3A	10371	broad.mit.edu	37	7	83592582	83592582	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr7:83592582T>A	ENST00000265362.3	-	16	2113	c.1799A>T	c.(1798-1800)aAg>aTg	p.K600M	SEMA3A_ENST00000436949.1_Missense_Mutation_p.K600M	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	600	Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TCTCTGCGACTTCGGACTGCA	0.438000													34	85					0	0	0.002445	0	0
TLE2	7089	broad.mit.edu	37	19	3011066	3011066	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr19:3011066G>A	ENST00000447365.2	-	8	1182	c.92C>T	c.(91-93)aCc>aTc	p.T31I	TLE2_ENST00000586422.1_Intron|TLE2_ENST00000443826.3_Silent_p.H200H|TLE2_ENST00000426948.2_Silent_p.H336H|TLE2_ENST00000262953.6_Silent_p.H322H|TLE2_ENST00000590536.1_Silent_p.H323H|TLE2_ENST00000591529.1_Silent_p.H336H|TLE2_ENST00000455444.2_Silent_p.H200H			Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	150	Gln-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGCAGAGGTGACTGGCCG	0.657000													4	16					0	0	0.000248	0	0
NCAPD3	23310	broad.mit.edu	37	11	134027943	134027943	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr11:134027943T>C	ENST00000534548.2	-	31	4118	c.4054A>G	c.(4054-4056)Att>Gtt	p.I1352V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1352					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGGATTGCAATGGTGCTCAGG	0.552000													38	137					0	0	0.004289	0	0
CCDC88A	55704	broad.mit.edu	37	2	55539617	55539617	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr2:55539617C>G	ENST00000436346.1	-	23	4873	c.4032G>C	c.(4030-4032)caG>caC	p.Q1344H	CCDC88A_ENST00000413716.2_Missense_Mutation_p.Q1343H|CCDC88A_ENST00000336838.6_Missense_Mutation_p.Q1343H|CCDC88A_ENST00000263630.8_Missense_Mutation_p.Q1344H|AC012358.8_ENST00000366287.4_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1344					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTCCATATTCTGCTCCAAAA	0.328000													13	54					0	0	0.002450	0	0
PTPRT	11122	broad.mit.edu	37	20	40710644	40710644	+	Missense_Mutation	SNP	G	G	T	rs144244064		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr20:40710644G>T	ENST00000373198.3	-	31	4451	c.4216C>A	c.(4216-4218)Cgt>Agt	p.R1406S	PTPRT_ENST00000356100.2_Missense_Mutation_p.R1393S|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1387S|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1384S|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1374S|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1383S|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1394S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1384	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R1406C(2)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTTCCACTACGGCCTCCCCCA	0.483000													5	171					5.9392e-07	7.38553e-07	0.001168	1	0
C12orf52	84934	broad.mit.edu	37	12	113629453	113629453	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr12:113629453C>G	ENST00000548278.1	+	4	1333	c.641C>G	c.(640-642)gCc>gGc	p.A214G	C12orf52_ENST00000552495.1_Missense_Mutation_p.A238G|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Missense_Mutation_p.A214G	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	214	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GGTCATCCAGCCACCAGTGCC	0.602000													3	62					0	0	0.000248	0	0
TRH	7200	broad.mit.edu	37	3	129695649	129695649	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr3:129695649G>T	ENST00000302649.3	+	3	846	c.319G>T	c.(319-321)Gct>Tct	p.A107S	TRH_ENST00000507066.1_Missense_Mutation_p.A103S	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	107					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						agaagggggggCTGTGGGACC	0.577000													5	80					0.000602214	0.000691538	0.000602	1	0
ARNT2	9915	broad.mit.edu	37	15	80762647	80762647	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr15:80762647G>T	ENST00000533983.1	+	5	589	c.250G>T	c.(250-252)Gca>Tca	p.A84S	ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000303329.4_Missense_Mutation_p.A95S|ARNT2_ENST00000527771.1_Missense_Mutation_p.A84S			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	95	Helix-loop-helix motif.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CACATGCAGCGCACTGGCTCG	0.552000													13	31					1.36491e-13	1.79988e-13	0.001855	1	0
SYNC	81493	broad.mit.edu	37	1	33149862	33149862	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:33149862T>C	ENST00000373484.3	-	3	1454	c.1355A>G	c.(1354-1356)tAt>tGt	p.Y452C	SYNC_ENST00000409190.3_Missense_Mutation_p.Y452C|RBBP4_ENST00000373493.5_3'UTR	NM_001161708.1	NP_001155180.1	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	452	Coil 2.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						AACTGACTTATAAGTAGAGAG	0.433000													139	187					0	0	0.003610	0	0
ZBTB11	27107	broad.mit.edu	37	3	101375081	101375081	+	Missense_Mutation	SNP	C	C	G	rs144559723		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr3:101375081C>G	ENST00000312938.4	-	7	2638	c.2058G>C	c.(2056-2058)aaG>aaC	p.K686N		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	686					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGATAAAAGTCTTTCCACAGA	0.333000													7	32					0	0	0.003080	0	0
VPS13B	157680	broad.mit.edu	37	8	100513997	100513997	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr8:100513997C>G	ENST00000395996.1	+	26	4064	c.3953C>G	c.(3952-3954)aCc>aGc	p.T1318S	VPS13B_ENST00000358544.2_Missense_Mutation_p.T1318S|VPS13B_ENST00000357162.2_Missense_Mutation_p.T1318S			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1318					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTGGAGGAACCAGTGGACGT	0.423000													10	125					0	0	0.006214	0	0
BAHD1	22893	broad.mit.edu	37	15	40756083	40756083	+	Silent	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr15:40756083A>G	ENST00000561234.1	+	4	2095	c.1836A>G	c.(1834-1836)cgA>cgG	p.R612R	BAHD1_ENST00000416165.1_Silent_p.R613R|BAHD1_ENST00000560846.1_Silent_p.R613R			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	613					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CAGCCATCCGAAAGAGCTACC	0.552000													7	14					0	0	0.001984	0	0
KIAA1551	55196	broad.mit.edu	37	12	32133942	32133942	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr12:32133942A>T	ENST00000312561.4	+	4	467	c.53A>T	c.(52-54)aAa>aTa	p.K18I	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		CTGTATCCTAAAAGCCAGCCA	0.383000													19	30					0	0	0.002780	0	0
FNDC1	84624	broad.mit.edu	37	6	159687230	159687230	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr6:159687230T>C	ENST00000297267.9	+	21	5599	c.5399T>C	c.(5398-5400)cTt>cCt	p.L1800P	FNDC1_ENST00000340366.6_Missense_Mutation_p.L1737P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1800						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGAGTTGTTCTTTGTAATTCA	0.443000													26	72					0	0	0.003954	0	0
KCNT2	343450	broad.mit.edu	37	1	196227581	196227581	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:196227581T>A	ENST00000367433.5	-	25	2983	c.2882A>T	c.(2881-2883)gAc>gTc	p.D961V	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.D985V|KCNT2_ENST00000367431.4_Missense_Mutation_p.D919V			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	985						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTCTTTGGAGTCTTTGGTGTC	0.433000													10	78					0	0	0.000978	0	0
CLEC4G	339390	broad.mit.edu	37	19	7794310	7794310	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr19:7794310T>C	ENST00000328853.5	-	9	892	c.824A>G	c.(823-825)gAc>gGc	p.D275G		NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	275	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						ACACGGTGCGTCGTTCCACAG	0.632000													3	47					0	0	0.004672	0	0
SMARCA1	6594	broad.mit.edu	37	X	128640093	128640093	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chrX:128640093G>A	ENST00000371122.4	-	8	1191	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	SMARCA1_ENST00000371121.3_Silent_p.L354L|SMARCA1_ENST00000371123.1_Silent_p.L354L	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	354	Helicase ATP-binding.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ATAAAAAGTTGAGTAAGGCCC	0.373000													35	33					0	0	0.004289	0	0
ARNT2	9915	broad.mit.edu	37	15	80872870	80872870	+	Missense_Mutation	SNP	C	C	T	rs144530385		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr15:80872870C>T	ENST00000533983.1	+	17	2038	c.1699C>T	c.(1699-1701)Cgt>Tgt	p.R567C	RP11-379K22.3_ENST00000603875.1_RNA|ARNT2_ENST00000303329.4_Missense_Mutation_p.R578C|ARNT2_ENST00000527771.1_Missense_Mutation_p.R567C			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	578					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GACAGGGAGTCGTCCGCCCTT	0.567000													15	39					0	0	0.002450	0	0
YWHAE	7531	broad.mit.edu	37	17	1268247	1268247	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr17:1268247C>A	ENST00000264335.8	-	2	437	c.170G>T	c.(169-171)aGa>aTa	p.R57I	YWHAE_ENST00000571732.1_Missense_Mutation_p.R35I|YWHAE_ENST00000575977.1_Missense_Mutation_p.R57I|YWHAE_ENST00000573026.1_Intron	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide	57		Interaction with phosphoserine on interacting protein.			apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CCAGGAGGCTCTTCTAGCTCC	0.423000			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						5	142					3.59834e-05	4.29652e-05	0.001168	1	0
TAP1	6890	broad.mit.edu	37	6	32819997	32819997	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr6:32819997C>T	ENST00000354258.4	-	3	1074	c.913G>A	c.(913-915)Ggt>Agt	p.G305S	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.G44S	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	305	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						ATCCCGTCACCCACGAACTCC	0.537000													9	123					0	0	0.000978	0	0
ZPLD1	131368	broad.mit.edu	37	3	102157324	102157324	+	Splice_Site	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr3:102157324G>T	ENST00000306176.1	+	2	141	c.40_splice	c.e2-1	p.G14_splice	ZPLD1_ENST00000466937.1_5'UTR|ZPLD1_ENST00000491959.1_5'UTR	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	0						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TCTTTTCCAGGTTTTGCAATG	0.458000													16	62					1.5739e-10	2.04181e-10	0.004007	1	0
EPHA5	2044	broad.mit.edu	37	4	66217243	66217243	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr4:66217243A>G	ENST00000273854.3	-	14	2972	c.2372T>C	c.(2371-2373)cTt>cCt	p.L791P	EPHA5_ENST00000511294.1_Missense_Mutation_p.L792P|EPHA5_ENST00000354839.4_Missense_Mutation_p.L769P|EPHA5_ENST00000432638.2_Missense_Mutation_p.L628P	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	791	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CATGTCAGAAAGGTACTTCAT	0.423000										TSP Lung(17;0.13)			8	29					0	0	0.004482	0	0
ROBO4	54538	broad.mit.edu	37	11	124763789	124763789	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr11:124763789G>A	ENST00000306534.3	-	9	1956	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C	ROBO4_ENST00000533054.1_Missense_Mutation_p.R346C	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	491					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.R491C(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CGGCGCCGGCGGTGGATACAC	0.647000													4	17					0	0	0.000248	0	0
C12orf4	57102	broad.mit.edu	37	12	4599038	4599038	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr12:4599038G>C	ENST00000261250.3	-	14	1681	c.1594C>G	c.(1594-1596)Ctt>Gtt	p.L532V	C12orf4_ENST00000545746.1_Missense_Mutation_p.L532V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	532										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATGTTACTAAGTTGATAAAAC	0.313000													30	35					0	0	0.002445	0	0
OR10A2	341276	broad.mit.edu	37	11	6891056	6891056	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr11:6891056T>G	ENST00000307322.4	+	1	133	c.71T>G	c.(70-72)gTc>gGc	p.V24G		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATCTACCTGGTCACCCTGATG	0.448000													5	251					0	0	0.001168	0	0
ITSN2	50618	broad.mit.edu	37	2	24498605	24498606	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:24498605_24498606insT	ENST00000355123.4	-	18	2500_2501	c.2057_2058insA	c.(2056-2058)aaafs	p.K686fs	ITSN2_ENST00000406921.3_Frame_Shift_Ins_p.K686fs|ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.K659fs	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	686					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.K685N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCTAGTTTCTTTTTCTGCAT	0.327													12	67	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137893473	137893474	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:137893473_137893474insGT	ENST00000260803.4	-	1	317_318	c.164_165insAC	c.(163-165)cccfs	p.P55fs	DBR1_ENST00000463982.2_5'UTR|DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	55						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GATACTTGGGCGGCACGGCCAT	0.693													9	18	---	---	---	---					
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs70994948		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683													5	1	---	---	---	---					
HLA-F-AS1	285830	broad.mit.edu	37	6	29709414	29709414	+	RNA	DEL	A	A	-			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:29709414delA	ENST00000458236.1	-	0	349																											tagtttccccatttcatagat	0.458													6	9	---	---	---	---					
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:52883129delT	ENST00000356971.3	-	8	1151	c.663_splice	c.e8+1	p.K221_splice	ICK_ENST00000350082.5_Splice_Site_p.K221_splice	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502													8	476	---	---	---	---					
RP11-386D6.2	0	broad.mit.edu	37	8	87788813	87788815	+	RNA	DEL	TTC	TTC	-			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:87788813_87788815delTTC	ENST00000520649.1	+	0	341																											GAATCTTCAATTCTTTATTACTT	0.374													5	6	---	---	---	---					
ZNF782	158431	broad.mit.edu	37	9	99581247	99581247	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:99581247delA	ENST00000481138.1	-	6	1719	c.1058delT	c.(1057-1059)tcfs	p.F353fs	ZNF782_ENST00000535338.1_Frame_Shift_Del_p.F221fs	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ATGTACACTGAAAGTTGACTG	0.408													93	62	---	---	---	---					
RALGPS1	9649	broad.mit.edu	37	9	129958852	129958852	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:129958852delC	ENST00000259351.5	+	13	1404	c.1137delC	c.(1135-1137)agfs	p.S379fs	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	379					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGTCCCGCAGCCCCCGAAGGG	0.562													19	101	---	---	---	---					
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs5811180		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtg>gt	p.VP293del	TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	293	Pro-rich.					integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768													3	3	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23299147	23299147	+	RNA	DEL	A	A	-			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:23299147delA	ENST00000560464.1	-	0	4510																											ACATTCAAAGAAAAAAAAAAA	0.313													4	6	---	---	---	---					
DYRK1B	9149	broad.mit.edu	37	19	40321138	40321140	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:40321138_40321140delCTT	ENST00000593685.1	-	4	715_717	c.247_249delAAG	c.(247-249)del	p.K83del	DYRK1B_ENST00000597639.1_In_Frame_Del_p.K83del|DYRK1B_ENST00000323039.5_In_Frame_Del_p.K83del|DYRK1B_ENST00000601972.1_In_Frame_Del_p.K83del|DYRK1B_ENST00000348817.3_In_Frame_Del_p.K83del|DYRK1B_ENST00000430012.2_In_Frame_Del_p.K83del			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	83					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CCTTCTTCTCCTTCTTGTTGCTC	0.581													26	96	---	---	---	---					
MIR646HG	284757	broad.mit.edu	37	20	58883399	58883400	+	RNA	INS	-	-	T	rs149794923	by1000genomes	TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:58883399_58883400insT	ENST00000432910.1	+	0	332					NR_046099.1																						ggaccgggaaacagatgcttac	0.569													10	4	---	---	---	---					
XBP1	7494	broad.mit.edu	37	22	29196498	29196499	+	In_Frame_Ins	INS	-	-	GCC			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr22:29196498_29196499insGCC	ENST00000216037.6	-	1	86_87	c.14_15insGGC	c.(13-15)ggc>gGGCgc	p.5_6insR	XBP1_ENST00000344347.5_In_Frame_Ins_p.5_6insR|XBP1_ENST00000403532.3_In_Frame_Ins_p.5_6insR	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	5					immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						TCGGCGCGGCTGCCACCACCAC	0.762													3	2	---	---	---	---					
ITSN2	50618	broad.mit.edu	37	2	24498605	24498606	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr2:24498605_24498606insT	ENST00000355123.4	-	18	2500_2501	c.2057_2058insA	c.(2056-2058)aaafs	p.K686fs	ITSN2_ENST00000406921.3_Frame_Shift_Ins_p.K686fs|ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.K659fs	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	686					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.K685N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCTAGTTTCTTTTTCTGCAT	0.327													12	67	---	---	---	---					
AC027612.3	0	broad.mit.edu	37	2	91899626	91899626	+	RNA	DEL	A	A	-			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr2:91899626delA	ENST00000436174.1	-	0	168																											CCAGAGGCTCAAAAAAAAAAA	0.289													4	3	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137893473	137893474	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr3:137893473_137893474insGT	ENST00000260803.4	-	1	317_318	c.164_165insAC	c.(163-165)cccfs	p.P55fs	DBR1_ENST00000463982.2_5'UTR|DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	55						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GATACTTGGGCGGCACGGCCAT	0.693													9	18	---	---	---	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs60664426		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)del	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis|rRNA processing	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													5	10	---	---	---	---					
BHLHE22	27319	broad.mit.edu	37	8	65494020	65494021	+	In_Frame_Ins	INS	-	-	GCA	rs34265378		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr8:65494020_65494021insGCA	ENST00000321870.1	+	1	1207_1208	c.673_674insGCA	c.(673-675)cag>GCAcag	p.224_225insA	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	224	Gly-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S234delS(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						cggcagcggcggcagcagcagc	0.718													6	3	---	---	---	---					
ZNF782	158431	broad.mit.edu	37	9	99581247	99581247	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr9:99581247delA	ENST00000481138.1	-	6	1719	c.1058delT	c.(1057-1059)tcfs	p.F353fs	ZNF782_ENST00000535338.1_Frame_Shift_Del_p.F221fs	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ATGTACACTGAAAGTTGACTG	0.408													93	62	---	---	---	---					
RALGPS1	9649	broad.mit.edu	37	9	129958852	129958852	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr9:129958852delC	ENST00000259351.5	+	13	1404	c.1137delC	c.(1135-1137)agfs	p.S379fs	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	379					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGTCCCGCAGCCCCCGAAGGG	0.562													19	101	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													2	4	---	---	---	---					
DYRK1B	9149	broad.mit.edu	37	19	40321138	40321140	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr19:40321138_40321140delCTT	ENST00000593685.1	-	4	715_717	c.247_249delAAG	c.(247-249)del	p.K83del	DYRK1B_ENST00000597639.1_In_Frame_Del_p.K83del|DYRK1B_ENST00000601972.1_In_Frame_Del_p.K83del|DYRK1B_ENST00000348817.3_In_Frame_Del_p.K83del|DYRK1B_ENST00000323039.5_In_Frame_Del_p.K83del|DYRK1B_ENST00000430012.2_In_Frame_Del_p.K83del			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	83					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CCTTCTTCTCCTTCTTGTTGCTC	0.581													26	96	---	---	---	---